Copy Number Variations tool


Copy number variants (CNVs), mainly major deletions and duplications, within the β-globin and α-globin gene cluster causing approximately 10% and 95% of the β- and α-thalassaemia respectively.
The CNVs tool is a novel ITHANET tool that provide significant information about the large deletions/duplications. The tool allows the user to enter:

  • Specific breakpoints (single base/exact location) to retrieve the corresponding known CNV
  • Approximated breakpoints (range of the 3’ and 5’ breakpoints) to retrieve a candidate list of known CNVs
  • MLPA probes to retrieve a specific or a list of known CNVs

Filter table by:

Locations of the breakpoints and MLPA probes are based on GRCh38.p13.
The SALSA MLPA Probemix P102-D1 HBB and P140-C1 HBA kit were used.
A tool for converting genome coordinates and genome annotation files between assemblies can be found here.
The individual locus and chromosome breakpoint positions can be viewed by expanding () each filtering results row.
IthaID Common name Genes 5' Breakpoints 3' Breakpoints HGVS name Functionality Locus 5' BP from Locus 5' BP to Locus 3' BP from Locus 3' BP to Chromosome 5' BP from Chromosome 5' BP to Chromosome 3' BP from Chromosome 3' BP to Chromosome Locus Edit
Type MLPA Probes Type HGVS name Functionality Locus 5' BP from Locus 5' BP to Locus 3' BP from Locus 3' BP to Chromosome 5' BP from Chromosome 5' BP to Chromosome 3' BP from Chromosome 3' BP to Chromosome Locus
Last normal 1st affected Last affected 1st normal HGVS name Functionality Locus 5' BP from Locus 5' BP to Locus 3' BP from Locus 3' BP to Chromosome 5' BP from Chromosome 5' BP to Chromosome 3' BP from Chromosome 3' BP to
110IVS I-5 (G>A) + Corfu deletionHBB, HBDExact21235-L2961121555-L3039705821-L0632721239-L29615Exact NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>ACausative57237No other BP definedNo other BP defined644435233173No other BP definedNo other BP defined524037911β-locus
209IVS II-535 - CD 108 (+23, -310, +28)HBBExactNo probeNo probeNo probeNo probeExactHBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT]Causative71590No other BP definedNo other BP defined718995225717No other BP definedNo other BP defined522602611β-locusThis is a special case where MLPA probes could not be detected due to the size of the deletion.
281IVS I [3 end] -44 bpHBBExactNo probeNo probeNo probeNo probeExactHBB:c.76_92+27delCausative70670No other BP definedNo other BP defined707135226903No other BP definedNo other BP defined522694611β-locusThis is a special case where MLPA probes could not be detected due to the size of the deletion.
282105 bp deletionHBBExact11883-L1268311883-L1268305828-L0533205827-L06319ExactHBB:c.-74_31delCausative70521No other BP definedNo other BP defined706255226991No other BP definedNo other BP defined522709311β-locus
283290 bp deletionHBBExact05833-L0533511883-L1268305827-L0631911982-L24242ExactHBB:c.-176_92+25delCausative70419No other BP definedNo other BP defined707085226908No other BP definedNo other BP defined522719711β-locus
284468 bp deletionHBBExact11883-L1268305828-L0533205827-L0631911982-L24242ExactNC_000011.10:g.5227081_5227548delCausative70068No other BP definedNo other BP defined705355227081No other BP definedNo other BP defined522754811β-locus
285BlackHBBExact11883-L1268311883-L1268305827-L0631911982-L24242ExactHBB:c.-504_28delCausative70091No other BP definedNo other BP defined706225226994No other BP definedNo other BP defined522751711β-locus
286619 bp deletionHBBExact11885-L2566613619-L1507313619-L1507305833-L05335ExactNG_000007.3:g.71609_72227del619Causative71609No other BP definedNo other BP defined722275225389No other BP definedNo other BP defined522600711β-locus
288Black, BritishHBBExact13619-L1507305833-L0533505827-L0631911982-L24242ExactNG_000007.3:g.70060_71452del1393Causative70060No other BP definedNo other BP defined714525226163No other BP definedNo other BP defined522755611β-locus
289CroatianHBBExact13619-L1507305833-L0533511982-L2424205824-L05328ExactNG_000007.3:g.69561_71164del1604Causative69561No other BP definedNo other BP defined711645226452No other BP definedNo other BP defined522805511β-locus
290ThaiHBBExact11980-L1280305836-L0632105827-L0631911982-L24242ExactNG_000007.3:g.69826_73313delCausative69826No other BP definedNo other BP defined733135224303No other BP definedNo other BP defined522779011β-locus
291CzechHBBExact13619-L1507305833-L0533505824-L0532818108-SP0126-L15076ExactN/ACausative67258No other BP definedNo other BP defined715015226115No other BP definedNo other BP defined523035811β-locus
292TurkHBBExact11885-L2566613619-L1507306400-L0532318248-SP0631-L27002ExactN/ACausative54024No other BP definedNo other BP defined721525225464No other BP definedNo other BP defined524359211β-locus
293Cape VerdeanHBBExact11980-L1280305836-L0632113619-L1507305833-L05335ExactN/ACausative71548No other BP definedNo other BP defined792715218334No other BP definedNo other BP defined522606811β-locus
294Asian IndianHBBRange11980-L1280305836-L0632105824-L0532818108-SP0126-L15076RangeN/ACausative67531675337787477876521974052197425230083523008511β-locus
295Australian (Anglo Saxon)HBBExact18253-L2296211980-L1280305827-L0631911982-L24242ExactN/ACausative69709No other BP definedNo other BP definedOut of locus5215894No other BP definedNo other BP defined522792611β-locus
296DutchHBBExact18251-L2700318253-L2296211982-L2424205824-L05328ExactNG_000007.3:g.68071_80682del12612Causative68071No other BP definedNo other BP defined806825216934No other BP definedNo other BP defined522954511β-locus
298FilipinoHBBExact18246-L3018018251-L2700305824-L0532818108-SP0126-L15076ExactNG_000007.3:g.66258_184734del118477Causative66258No other BP definedNo other BP definedOut of locus51112882No other BP definedNo other BP defined523135811β-locus
299ItalianHBBUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
300-α3.7 (type I)α3.7 hybrid, HBA1, HBA2Exact18881-L0628808498-L0842218881-L0628808498-L21607ExactNG_000006.1:g.34247_38050delCausative34247No other BP definedNo other BP defined38050173384No other BP definedNo other BP defined17718716α-locus
301-α4.2HBA1, HBA2Exact04637-L0401818097-L22521S0585-SP0043-L0949318096-L22520RangeNG_000006.1:g.30681_(34619_34938)delCausative30681No other BP defined3461934938169818No other BP defined17375617407516α-locus
302-α2.4HBA1Exact14855-L2360418093-L2251704638-L2360204639-L04020ExactN/ACausative36860No other BP definedNo other BP defined39252175997No other BP definedNo other BP defined17838916α-locus
303-α2.7HBA1Exact14855-L2360418093-L2251704638-L2360204639-L04020ExactNG_000006.1:g.36664_39364del2701Causative36664No other BP definedNo other BP defined39364175801No other BP definedNo other BP defined17850116α-locus
304-α3.5HBA1Exact18093-L2251718099-L2252404639-L0402019233-L25313ExactNG_000006.1:g.37464_40964del3501Causative37464No other BP definedNo other BP defined40964176601No other BP definedNo other BP defined18010116α-locus
305-α5.3HBA2Exact04637-L0401818097-L2252118881-L0628808498-L08422ExactNG_000006.1:g.28684_33930del5246Causative28684No other BP definedNo other BP defined33930167821No other BP definedNo other BP defined17306616α-locus
306-α7.9HBA2Exact04637-L0401818097-L2252108494-L0841714855-L23604ExactN/ACausative28322No other BP definedNo other BP defined36260167459No other BP definedNo other BP defined17539716α-locus
307-α18HBA1UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
309--SEAHBA1, HBA2Exact04624-L0400404637-L0401819233-L2531315859-L21960ExactNG_000006.1:g.26264_45564del19301Causative26264No other BP definedNo other BP definedOut of locus165401No other BP definedNo other BP defined18470116α-locus
310--THAIHBA1, HBA2, HBZExact04622-L0400117214-SP0457-L2048919233-L2531315859-L21960ExactNC_000016.10:g.149863_183312delCausative10726No other BP definedNo other BP definedOut of locus149863No other BP definedNo other BP defined18331216α-locus
311--FILHBA1, HBA2, HBZExact04622-L0400117214-SP0457-L2048919233-L2531315859-L21960ExactNC_000016.10:g.151641_182316delCausative12504No other BP definedNo other BP definedOut of locus151641No other BP definedNo other BP defined18231616α-locus
312--MED IHBA1, HBA2Range04624-L0400404637-L0401804639-L0402019233-L25313RangeN/ACausative2364123662411834120316277816279918032018034016α-locus
313--MED IIHBA1, HBA2, HBZRange04926-L2388604622-L0400104639-L0402019233-L25313RangeN/ACausative77409712399074115614687714884917904418029316α-locus
314-(α)20.5HBA1, HBA2Range17214-SP0457-L2048904624-L0400418881-L0628808498-L21607RangeN/ACausative1814818200378683790115728515733717700517703816α-locus
315--SAHBA1, HBA2Exact17214-SP0457-L2048904624-L0400419233-L2531315859-L21960ExactNG_000006.1:g.19464_43064del23601Causative19915No other BP definedNo other BP definedOut of locus159052No other BP definedNo other BP defined18278816α-locus
316-(α)5.2HBA1, HBA2UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
317--GEOHBA1, HBA2Exact18098-L2252218092-L2251619233-L2531315859-L21960ExactNG_000006.1:g.32864_42264del9401Causative32864No other BP definedNo other BP defined42264172001No other BP definedNo other BP defined18140116α-locus
318--SPANHBA1, HBA2Range04637-L0401818097-L2252119233-L2531315859-L21960RangeNC_000016.10:g.(169756_170100)_(179044_181595)delCausative3061930963399074245816975617010017904418159516α-locus
319--MAHBA1, HBA2Exact17214-SP0457-L2048904624-L0400404638-L2360204639-L04020ExactNG_000006.1:g.18964_39864del20901Causative18964No other BP definedNo other BP defined39864158101No other BP definedNo other BP defined17900116α-locus
320--BRITHBA1, HBA2Exact17214-SP0457-L2048904624-L0400419233-L2531315859-L21960ExactNG_000006.1:g.16364_45664del29301Causative16364No other BP definedNo other BP definedOut of locus155501No other BP definedNo other BP defined18480116α-locus
321--CLHBA1, HBA2, HBZExact04622-L0400117214-SP0457-L2048917227-L2055418102-L20488ExactNG_000006.1:g.13314_124664del111351Causative13314No other BP definedNo other BP definedOut of locus152451No other BP definedNo other BP defined26380116α-locus
322--CIHBA1, HBA2Range17214-SP0457-L2048904624-L0400415859-L21960UnknownRangeN/ACausative1924322379Out of locusBP extends beyond the MLPA probes158380161516186053BP extends beyond the MLPA probes16α-locus
323--CALHBA1, HBA2, HBZExact04926-L2388604622-L0400104639-L0402019233-L25313ExactNG_000006.1:g.8464_40664del32201Causative8464No other BP definedNo other BP defined40664147601No other BP definedNo other BP defined17980116α-locus
324--115HBA1, HBA2, HBZRange04622-L0400117214-SP0457-L2048904639-L0402019233-L25313RangeN/ACausative1315813584399074125615229515272117904418029316α-locus
325--RTHBA1, HBA2, HBZExact04622-L0400117214-SP0457-L2048919233-L2531315859-L21960ExactNG_000006.1:g.12264_49164del36901Causative12264No other BP definedNo other BP definedOut of locus151401No other BP definedNo other BP defined18830116α-locus
326--YEMHBA1, HBA2Range17214-SP0457-L2048904624-L0400419233-L2531315859-L21960RangeN/ACausative1620117547414204263315533815668418055718177016α-locus
327--MCHBA1, HBA2, HBZExact04800-L0417504926-L2388619233-L2531315859-L21960ExactNG_000006.1:g.164_43364del43201Causative164No other BP definedNo other BP definedOut of locus139301No other BP definedNo other BP defined18250116α-locus
328--CANTHBA1, HBA2Range04637-L0401818097-L2252119233-L2531315859-L21960RangeNC_000016.10:g.(168531_169756)_(182770_183028)delCausative2939430619Out of locusOut of locus16853116975618277018302816α-locus
329--KOLHBA1, HBA2, HBZRange04622-L0400117214-SP0457-L2048919233-L2531315859-L21960RangeN/ACausative1258212609Out of locusOut of locus15171915174618506718509316α-locus
330--11.1HBA1, HBA2Range18090-L0841518098-L2252219233-L2531315859-L21960RangeN/ACausative3169531724428464286717083217086118198318200416α-locus
331--OHHBA1, HBA2, HBZExact04926-L2388604622-L0400118102-L2048817212-L13393ExactN/ACausative10021No other BP definedNo other BP definedOut of locus149158No other BP definedNo other BP defined28457116α-locus
332(αα)RAHS40, HBZRange19236-L2531604799-L0479718092-L2251618881-L06288RangeN/ACausativeOut of locusOut of locus15368337398538613867315450317287616α-locus
333(αα)TIHS40ExactNo probe19236-L2531604800-L0417504926-L23886ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus10023No other BP definedNo other BP defined12285416α-locus
334(αα)IJHS40Range19236-L2531604799-L0479704622-L0400117214-SP0457-L20489RangeN/ACausativeOut of locusOut of locusOut of locus13507853868584613867315264416α-locus
335(αα)CMOHS40, HBZExactNo probe19236-L2531617214-SP0457-L2048904624-L04004ExactN/ACausativeOut of locusNo other BP definedNo other BP defined1854710018No other BP definedNo other BP defined15768416α-locus
336(αα)TATHS40, HBZExactNo probe19236-L2531617214-SP0457-L2048904624-L04004ExactN/ACausativeOut of locusNo other BP definedNo other BP defined1368610020No other BP definedNo other BP defined15282316α-locus
337(αα)MBHS40RangeNo probe19236-L2531604622-L0400117214-SP0457-L20489RangeN/ACausativeOut of locusOut of locusOut of locus13507289283649113867315264416α-locus
338(αα)ICHS40ExactNo probe19236-L2531604800-L0417504926-L23886ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus10018No other BP definedNo other BP defined13119416α-locus
339(αα)IdFHS40, HBZExactNo probe19236-L2531617214-SP0457-L2048904624-L04004ExactN/ACausativeOut of locusNo other BP definedNo other BP defined1531210020No other BP definedNo other BP defined15444916α-locus
1396Hb ParchmanHBB, HBDRange05833-L0533511883-L1268321235-L2961121555-L30397RangeNG_000007.3:g.[63249_70661del;63571_70985dup]Causative63249635717066170985522663152269555234045523436711β-locus
1397Hb Lepore-HollandiaHBB, HBDExact11883-L1268311883-L1268321235-L2961121555-L30397ExactNG_000007.3:g.63290_70702delCausative63290No other BP definedNo other BP defined707025226914No other BP definedNo other BP defined523432611β-locus
1398Hb Lepore-BaltimoreHBB, HBDExact05833-L0533511883-L1268321235-L2961121555-L30397ExactNG_000007.3:g.63564_70978delCausative63564No other BP definedNo other BP defined709785226638No other BP definedNo other BP defined523405211β-locus
1399Hb Lepore-Boston-WashingtonHBB, HBDExact05833-L0533511883-L1268321235-L2961121555-L30397ExactNG_000007.3:g.63632_71046delCausative63632No other BP definedNo other BP defined710465226570No other BP definedNo other BP defined523398411β-locus
1400Hb Lepore-LeidenHBB, HBDUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1401Hb MiyadaHBB, HBDExact11980-L1280305836-L0632121235-L2961121555-L30397ExactNG_000007.3:g.63249_70661dupCausative63249No other BP definedNo other BP defined706615217955No other BP definedNo other BP defined523436711β-locus
1402Hb P-CongoHBB, HBDExact13619-L1507305833-L0533521235-L2961121555-L30397ExactNG_000007.3:g.64557_71923dupCausative64557No other BP definedNo other BP defined719235225693No other BP definedNo other BP defined523305911β-locus
1403Hb P-IndiaHBB, HBDExact05833-L0533511883-L1268321235-L2961121555-L30397ExactNG_000007.3:g.63632_71046dupCausative63632No other BP definedNo other BP defined710465226570No other BP definedNo other BP defined523398411β-locus
1404Hb Hong KongHBB, HBDExact11883-L1268305828-L0533221235-L2961121555-L30397ExactNG_000007.3:g.63160_70572dupCausative63160No other BP definedNo other BP defined705725227044No other BP definedNo other BP defined523445611β-locus
1405Hb P-NiloticHBB, HBDExact05833-L0533511883-L1268321235-L2961121555-L30397ExactNG_000007.3:g.63461_70874dupCausative63461No other BP definedNo other BP defined708745226742No other BP definedNo other BP defined523415511β-locus
1497Corfu (δ)0HBDExact21235-L2961121555-L3039705821-L0632721239-L29615ExactNG_000007.3:g.57237_64443del7207Causative57237No other BP definedNo other BP defined644435233173No other BP definedNo other BP defined524037911β-locus
1498Hb KenyaHBB, HBBP1, HBD, HBG1Exact05833-L0533511883-L1268321237-L2961321231-L29607**ExactNG_000007.3:g.48194_70985delCausative48194No other BP definedNo other BP defined709855226631No other BP definedNo other BP defined524942211β-locus
1499BlackHBB, HBDExact18251-L2700318253-L2296205821-L0632721239-L29615ExactNC_000011.10:g.5153222_5238138delinsAAATACausative59478No other BP definedNo other BP definedOut of locus5153222No other BP definedNo other BP defined523813811β-locus
1500GhanaianHBB, HBBP1, HBDExact18251-L2700318253-L2296221239-L2961506400-L05323ExactNC_000011.10:g.5158438_5242749delCausative54867No other BP definedNo other BP definedOut of locus5157437No other BP definedNo other BP defined524274911β-locus
1501IndianHBB, HBBP1, HBDExact18253-L2296211980-L1280318248-SP0631-L2700221237-L29613ExactNC_000011.10:g.5214446_5247107delCausative50509No other BP definedNo other BP definedOut of locus5214446No other BP definedNo other BP defined524710711β-locus
1502Italian 1HBB, HBDUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1503Italian 2, SicilianHBB, HBDExact11980-L1280305836-L0632121555-L3039705821-L06327ExactN/ACausative59893No other BP definedNo other BP defined728185224797No other BP definedNo other BP defined523774311β-locus
1504SE Asian, Thai (Aγδβ)0HBB, HBBP1, HBD, HBG1, OR51V1,
OR52Z1-OR51V1
Exact18251-L2700318253-L2296205817-L0532118109-SP0127-L27005ExactNC_000011.10:g.5172745_5252029Causative45587No other BP definedNo other BP definedOut of locus5172745No other BP definedNo other BP defined525202911β-locus
1505Vietnamese, SE AsianHBBExact18253-L2296211980-L1280311982-L2424205824-L05328ExactNC_000011.10:g.5201647-5229059del27412bpCausative68557No other BP definedNo other BP definedOut of locus5201647No other BP definedNo other BP defined522905911β-locus
1506Indian (δβ)0HBB, HBBP1, HBDExact18248-SP0631-L2700221237-L2961321230-L30179*05815-L05319ExactNG_000007.3:g.50509_83170del32662Causative42151No other BP definedNo other BP defined747745247107No other BP definedNo other BP defined525545111β-locus
1507Sicilian (δβ)0HBB, HBDExact11980-L1280305836-L0632121235-L2961121555-L30397ExactNG_000007.3:g.64336_77738del13403Causative64336No other BP definedNo other BP defined777385219878No other BP definedNo other BP defined523328011β-locus
1508Japanese (δβ)0HBB, HBBP1, HBDExact18246-L3018018251-L2700318248-SP0631-L2700221237-L29613ExactNC_000011.10:g.5132468_5246133del Causative51483No other BP definedNo other BP definedOut of locus5132468No other BP definedNo other BP defined524613311β-locus
1509Spanish (δβ)0HBB, HBDExact18246-L3018018251-L2700321555-L3039705821-L06327Exact NG_000011.10:g.5144331_5237241delCausative60375No other BP definedNo other BP definedOut of locus5144331No other BP definedNo other BP defined523724111β-locus
1510Black (δβ)0HBB, HBDRange05836-L0632111885-L2566621555-L3039705821-L06327RangeNG_000007.3:g.(60530_60730)_(72351_72551)del11822Causative605306073072351725515225065No other BP defined5236889523708611β-locus
1511East European (δβ)0HBB, HBDExact05833-L0533511883-L1268321555-L3039705821-L06327ExactN/ACausative61566No other BP definedNo other BP defined707085226908No other BP definedNo other BP defined523605011β-locus
1512Laotian (δβ)0HBB, HBDRange11980-L1280305836-L0632121235-L2961121555-L30397RangeNG_000007.3:g.(64336_64524)_76866delCausative6433664524No other BP defined768665220750No other BP defined5233092523328011β-locus
1513Thai/Vietnamese (δβ)0HBB, HBDExact11980-L1280305836-L0632121235-L2961121555-L30397ExactNG_000007.3:g.64384_76993delCausative64384No other BP definedNo other BP defined769935220623No other BP definedNo other BP defined523323211β-locus
1514Macedonian/Turkish (δβ)0HBB, HBDUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1515Turkish (δβ)0HBB, HBBP1, HBDUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1516Leiden 7.4 kb (δβ)0HBB, HBDRange11980-L1280305836-L0632105821-L0632721239-L29615RangeN/ACausative59658646677201981668521597652255975232949523795811β-locus
1517Thai 11.3 (δβ)0HBB, HBDExact13619-L1507305833-L0533521555-L3039705821-L06327ExactN/ACausative60045No other BP definedNo other BP defined713135226303No other BP definedNo other BP defined523757111β-locus
1518Japanese 2 (δβ)0HBB, HBBP1, HBDExact11980-L1280305836-L0632118248-SP0631-L2700221237-L29613ExactN/ACausative52036No other BP definedNo other BP defined789875218629No other BP definedNo other BP defined524558011β-locus
1519Indian (Aγδβ)0 (inv)HBB, HBBP1, HBD, HBG1UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1520German (Aγδβ)0HBB, HBBP1, HBD, HBG1Range18251-L2700318253-L2296205817-L0532118109-SP0127-L27005RangeNC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)delCausative4592246319Out of locusOut of locusBP starts from the telomere51989765251297525169411β-locus
1521Cantonese (Aγδβ)0HBB, HBBP1, HBD, HBG1UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1522Malaysian-1 (Aγδβ)0HBB, HBBP1, HBD, HBG1UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1523Malaysian-2 (Aγδβ)0HBB, HBBP1, HBD, HBG1Range18253-L2296211980-L1280321230-L30179*05817-L05321RangeNC_000011.10:g.(5207467_5208467)_(5250061_5250240)del Causative4737647553Out of locusOut of locus520746752084675250061525024011β-locus
1524Turkish (Aγδβ)0HBB, HBBP1, HBD, HBG1Exact11980-L1280305836-L0632105817-L0532118109-SP0127-L27005ExactNG_000007.3:g.45410_81665del36256Causative45410No other BP definedNo other BP defined816655215951No other BP definedNo other BP defined525220611β-locus
1525Belgian (Aγδβ)0HBB, HBBP1, HBD, HBG1Range18251-L2700318253-L2296218248-SP0631-L2700221237-L29613RangeN/ACausative4939349454Out of locusOut of locus519986351999045248162524822311β-locus
1526Black (Aγδβ)0HBB, HBBP1, HBD, HBG1Range18253-L2296211980-L1280321237-L2961321231-L29607**RangeNC_000011.10:g.5212727_5248576delCausative49040No other BP definedNo other BP definedOut of locus5212727No data availableNo data available524857611β-locus
1527Chinese (Aγδβ)0HBB, HBBP1, HBD, HBG1ExactNo probe18244-L2295321237-L2961321231-L29607**ExactNG_000007.3:g.48795_127698del78904Causative48795No other BP definedNo other BP definedOut of locus169893No other BP definedNo other BP defined524884011β-locus
1528Yunnanese (Aγδβ)0HBB, HBBP1, HBD, HBG1Exact18251-L2700318253-L2296221230-L30179*05817-L05321ExactN/ACausative47643No other BP definedNo other BP definedOut of locus5182845No other BP definedNo other BP defined524997311β-locus
1530Italian (Aγδβ)0HBB, HBBP1, HBD, HBG1Exact18246-L3018018251-L2700321237-L2961321231-L29607**ExactNC_000011.10:g.5194458_5249516delCausative48100No other BP definedNo other BP definedOut of locus5194458No other BP definedNo other BP defined524951611β-locus
1531Canadian (Aγδβ)0HBB, HBBP1, HBD, HBG1Exact18251-L2700318253-L2296205817-L0532118109-SP0127-L27005ExactN/ACausative45901No other BP definedNo other BP definedOut of locus5196589No other BP definedNo other BP defined525171511β-locus
1532Leiden 69.5HBB, HBBP1, HBD, HBG1Range18251-L2700318253-L2296205817-L0532118109-SP0127-L27005RangeN/ACausative4638449432Out of locusOut of locus516790651786845248184525123211β-locus
153349.3 kb Gγ(Aγδβ)0 Asian delHBB, HBBP1, HBD, HBG1Exact18253-L2296211980-L1280321230-L30179*05817-L05321ExactN/ACausative47074No other BP definedNo other BP definedOut of locus5201244No other BP definedNo other BP defined525054211β-locus
1534Anglo-Saxon (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Exact18253-L2296211980-L1280305804-L2700118249-L24239ExactNC_000011.8:g.5204501_5300223delCausativeOut of locusNo other BP definedNo other BP definedOut of locus5204501No other BP definedNo other BP defined530022311β-locus
1535Irish (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Exact18246-L3018018251-L2700305804-L2700118249-L24239ExactNC_000011.8:g.5110112_5312961delCausativeOut of locusNo other BP definedNo other BP definedOut of locus5110112No other BP definedNo other BP defined531296111β-locus
1536Canadian (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1537Scottish - IrishHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1538English I (εγδβ)0HBE1, HBG2, LCRBUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1539Mexican (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1540Hispanic (εγδβ)0HBE1, HBG1, HBG2, LCRBExact18248-SP0631-L2700221237-L2961305807-L2254005806-L22542ExactNG_000007.3:g.9430_49213delCausative9430No other BP definedNo other BP defined492135248403No other BP definedNo other BP defined528818611β-locus
1541Croatian (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Range18246-L3018018251-L2700305804-L2700118249-L24239RangeN/ACausative252011754Out of locusOut of locus515149151580925285862529509611β-locus
1542Dutch I (εγδβ)0HBBP1, HBD, HBE1, HBG1, HBG2, LCRBExact11982-L2424205824-L0532818249-L2423918247-SP0630-L27000ExactNC_000011.10:g.5229432_5329263delCausativeOut of locusNo other BP definedNo other BP defined681845229432No other BP definedNo other BP defined532926311β-locus
1543English IIHBE1, LCRBExact05815-L0531905813-L0531718249-L2423918247-SP0630-L27000ExactN/ACausativeOut of locusNo other BP definedNo other BP defined347675262849No other BP definedNo other BP defined536061611β-locus
1544English IIIHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1545English IVHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Exact18251-L2700318253-L2296218247-SP0630-L27000No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus5156866No other BP definedNo other BP defined559589411β-locus
1546ChileanHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
1547Dutch IIHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB, OR51B5, OR51M1, OR51V1
RangeNo probe18246-L3018018247-SP0630-L27000No probeRangeN/ACausativeOut of locusOut of locusOut of locusBP extends beyond the MLPA probesBP extends beyond the MLPA probes49999455409809543044011β-locus
1548Dutch IIIHBE1, HBG1, HBG2, LCRBExact21237-L2961321231-L29607**18249-L2423918247-SP0630-L27000ExactN/ACausativeOut of locusNo other BP definedNo other BP defined486665248950No other BP definedNo other BP defined536093611β-locus
1549Dutch IVHBE1, HBG1, HBG2, LCRB, OR51B5,
OR51B6
Range21239-L2961506400-L0532318247-SP0630-L27000No probeRangeN/ACausativeOut of locusOut of locus4943255582524203452481845440568547084911β-locus
1550Dutch VLCRBRange05815-L0531905813-L0531718247-SP0630-L27000No probeRangeN/ACausativeOut of locusOut of locus2775939645525797152698575409809543044011β-locus
1551Dutch VIHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
RangeUnknown05827-L0631918249-L2423918247-SP0630-L27000RangeN/ACausativeOut of locusOut of locus70398BP extends beyond the MLPA probesBP extends beyond the MLPA probes52272185373082538284811β-locus
1552JapaneseHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
ExactNo probe18244-L2295318247-SP0630-L27000No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus4600605No other BP definedNo other BP defined601933211β-locus
1553FrenchHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
2122125 bp deletionHBBExact05828-L0533205827-L0631905827-L0631911982-L24242ExactNG_000007.3:g.70360_70485del125Causative70360No other BP definedNo other BP defined704855227131No other BP definedNo other BP defined522725611β-locus
21237719 bp deletionHBBExact11980-L1280305836-L0632113619-L1507305833-L05335ExactNG_000007.3:g.71550_79270del7719Causative71550No other BP definedNo other BP defined792705218346No other BP definedNo other BP defined522606611β-locus
2124Caucasian HPFHHBBRange18253-L2296211980-L1280311982-L2424205824-L05328ExactNC_000011.10:g.5201455_5229279del;5223936_5223960ins25 Causative0No other BP definedNo other BP definedOut of locus5201455No other BP definedNo other BP defined522927911β-locus
2125AfghanHBBExact05833-L0533511883-L1268305827-L0631911982-L24242ExactHBB:c.-528_251delCausative70067No other BP definedNo other BP defined709765226640No other BP definedNo other BP defined522754911β-locus
2126South East Asian (SEA) deletionHBBExact18253-L2296211980-L1280311982-L2424205824-L05328ExactNC_000011.10:g.5201642_5229054delCausative68562No other BP definedNo other BP definedOut of locus5201642No other BP definedNo other BP defined522905411β-locus
2149N/AHBB, HBBP1, HBD, HBG1, HBG2Exact11883-L1268311883-L1268321230-L30179*05815-L05319ExactNG_000007.3:g.42946_70654delCausative42946No other BP definedNo other BP defined706545226962No other BP definedNo other BP defined525467011β-locus
21501357 bp deletionHBBExact13619-L1507305833-L0533505827-L0631911982-L24242ExactNG_000007.3:g.69997_71353del1357Causative69997No other BP definedNo other BP defined713535226263No other BP definedNo other BP defined522761911β-locus
2153Kabylia deletion/insertionHBBExact05836-L0632111885-L2566605827-L0631911982-L24242ExactNG_000007.3:g.70417_72458delinsATAAGCausative70417No other BP definedNo other BP defined724585225158No other BP definedNo other BP defined522719911β-locus
2154French deletion/insertionHBB, HBDExact11980-L1280305836-L0632121555-L3039705821-L06327ExactNG_000007.3:g.[61399_61400insC; 61402_81144del]Causative61402No other BP definedNo other BP defined811445216473No other BP definedNo other BP defined523621411β-locus
2155French West-Indies deletion/insertionHBB, HBDExact11980-L1280305836-L0632105821-L0632721239-L29615ExactNG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAGCausative57155No other BP definedNo other BP defined808875216729No other BP definedNo other BP defined524046211β-locus
2156Algerian HPFH deletionHBB, HBDExact11980-L1280305836-L0632105821-L0632721239-L29615ExactNG_000007.3:g.[57141_81002del; 81008delA]Causative57141No other BP definedNo other BP defined810065216610No other BP definedNo other BP defined524047511β-locus
2157IndianHBBExact13619-L1507305833-L0533505824-L0532818108-SP0126-L15076ExactNG_000007.3:g.67357_71413delCausative67357No other BP definedNo other BP defined714135226203No other BP definedNo other BP defined523025911β-locus
2158Pakistani IHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Exact18251-L2700318253-L2296218247-SP0630-L27000No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus5194461No other BP definedNo other BP defined570047411β-locus
2159(εγδβ)0 with α triplicationHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
2161French (εγδβ)0 insertion/deletionLCRBExact12189-L3018206395-L0531505806-L2254205804-L27001ExactN/ACausative7751No other BP definedNo other BP defined189055278711No other BP definedNo other BP defined528986511β-locus
2163Norwegian (εγδβ)0HBBP1, HBD, HBE1, HBG1, HBG2, LCRBExact11982-L2424205824-L0532818249-L2423918247-SP0630-L27000ExactN/ACausative69518No other BP definedNo other BP definedOut of locus5228098No other BP definedNo other BP defined535856911β-locus
2164Tennessean (εγδβ)0LCRBExact05813-L0531712189-L3018221240-L2961605807-L22540ExactN/ACausative10053No other BP definedNo other BP defined219315275685No other BP definedNo other BP defined528756311β-locus
2165Puerto Rican (εγδβ)0LCRBExact05813-L0531712189-L3018205806-L2254205804-L27001ExactN/ACausative2903No other BP definedNo other BP defined254325272169No other BP definedNo other BP defined529471311β-locus
2167Asian Indian (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
2190CD 62-83 (+65 bp)HBBExactNo probeNo probeNo probeNo probeExactHBB:c.187_251dupCausative70911No other BP definedNo other BP defined709755226641No other BP definedNo other BP defined522670511β-locusThis is a special case where MLPA probes could not be detected due to the size of the duplication.
2230-α3.7 (type II)α3.7 hybrid, HBA1, HBA2ExactS0585-SP0043-L0949318096-L2252015857-L2181208499-L23594ExactNG_000006.1:g.34478_38288delCausative34478No other BP definedNo other BP defined38288173615No other BP definedNo other BP defined17742516α-locus
2231-α3.7 (type III)α3.7 hybrid, HBA1, HBA2ExactS0585-SP0043-L0949318096-L2252015857-L2181208499-L23594ExactNG_000006.1:g.34570_38381del Causative34570No other BP definedNo other BP defined38381173707No other BP definedNo other BP defined17751816α-locus
2232-α27.6HBA2, HBZExact04926-L2388604622-L0400114855-L2360418093-L22517ExactNG_000006.1:g.9079_36718del27640Causative9079No other BP definedNo other BP defined36718148216No other BP definedNo other BP defined17585516α-locus
2233HBZExact04622-L0400117214-SP0457-L2048904624-L0400404637-L04018ExactN/ACausative13718No other BP definedNo other BP defined26068152644No other BP definedNo other BP defined16520516α-locus
2234-α16.6HBA2, HBZRange17214-SP0457-L2048904624-L0400408494-L0841714855-L23604RangeN/ACausative19842198453647936486015897915898217561617562316α-locus
2235α-αΔ970HBA1Exact14855-L2360418093-L2251718099-L2252418881-L06288ExactN/ACausative36599No other BP definedNo other BP defined37568175736No other BP definedNo other BP defined17670516α-locus
2236--DUTCH IHBA1, HBA2, HBZExact04926-L2388604622-L0400104639-L0402019233-L25313ExactN/ACausative7622No other BP definedNo other BP defined41156146759No other BP definedNo other BP defined18030916α-locus
2237--AWHBA1, HBA2Exact18090-L0841518098-L2252204638-L2360204639-L04020ExactN/ACausative32143No other BP definedNo other BP defined40317171280No other BP definedNo other BP defined17945416α-locus
2238--BGSHS40, HBA1, HBA2, HBZExact19236-L2531604799-L0479704638-L2360204639-L04020ExactN/ACausativeOut of locusNo other BP definedNo other BP defined4023747749No other BP definedNo other BP defined17937416α-locus
2239--CAMPANIAHBA1, HBA2, HBZRange04926-L2388604622-L0400104638-L2360204639-L04020RangeN/ACausative86358924398354013314777214806117897217927016α-locus
2240--FIL-2HBA1, HBA2Exact17214-SP0457-L2048904624-L0400419233-L2531315859-L21960ExactN/ACausative17051No other BP definedNo other BP definedOut of locus156188No other BP definedNo other BP defined18410316α-locus
2241--EDHS40, HBA1, HBA2, HBZRange19236-L2531604799-L0479719233-L2531315859-L21960RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus11058211338618726618877316α-locus
2242--GPHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531619233-L2531315859-L21960RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus438034712318726618864916α-locus
2243(αα)ASHS40Range19236-L2531604799-L0479704800-L0417504926-L23886RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus53608853868538613867316α-locus
2244(αα)JMHS40, HBZRange19236-L2531604799-L0479718092-L2251618881-L06288RangeN/ACausativeOut of locusOut of locus1536833739536085482815450317287616α-locus
2245(αα)MMHS40RangeNo probe19236-L2531604926-L2388604622-L04001RangeN/ACausativeBP extends beyond the MLPA probesOut of locus22594565BP extends beyond the MLPA probes5332214139614370216α-locus
2246(αα)LHS40RangeNo probe19236-L2531604624-L0400404637-L04018RangeN/ACausativeBP extends beyond the MLPA probesOut of locus1320823659BP extends beyond the MLPA probes5579915234516279616α-locus
2247(αα)SNHS40, HBZRange19236-L2531604799-L0479718092-L2251618881-L06288RangeN/ACausativeOut of locusOut of locus15368337398538613867315450317287616α-locus
2248(αα)ScoHS40Range19236-L2531604799-L0479704800-L0417504926-L23886RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus936189363514163114164816α-locus
2249(αα)ZWHS40ExactNo probeNo probeNo probeNo probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus90778No other BP definedNo other BP defined10677316α-locusThis is a special case where MLPA probes could not be detected due to the size of the deletion.
2250(αα)RSRHS40, HBZRange19236-L2531604799-L0479718092-L2251618881-L06288RangeN/ACausativeOut of locusOut of locus1536833739538285766915450317287616α-locus
2251(αα)MCuHS40, HBZRange19236-L2531604799-L0479718092-L2251618881-L06288RangeN/ACausativeOut of locusOut of locus1536833739538285766915450317287616α-locus
2252--BRHS40, HBA1, HBA2, HBZExactNo probe15859-L2196015859-L2196017227-L20554ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus11555No other BP definedNo other BP defined22948216α-locus
2253--ZWHS40, HBA1, HBA2, HBZExactNo probe15859-L2196015859-L2196017227-L20554ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus11555No other BP definedNo other BP defined22948216α-locus
2254--JYHS40, HBA1, HBA2, HBZRange19236-L2531604799-L0479715859-L2196017227-L20554RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus536085482818896922944916α-locus
2255--LCHS40, HBA1, HBA2, HBZRange19236-L2531604799-L0479715859-L2196017227-L20554RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus538285766918896922944916α-locus
2256--VRHS40, HBA1, HBA2, HBZRange19236-L2531604799-L0479715859-L2196017227-L20554RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus536085482818896922944916α-locus
2257--JTHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617212-L1339317613-L23601RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus440354409231203331209016α-locus
2258--ABHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617613-L23601No probeRangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes5579936087041035416α-locus
2259--GZHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617613-L23601No probeRangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes5332287963991006516α-locus
2260Dutch IIHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617212-L1339317613-L23601RangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes5579928453829809216α-locus
2261--MKHS40, HBA1, HBA2, HBZRange04799-L0479704800-L0417517212-L1339317613-L23601RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus11369613056629809333109316α-locus
2262--80HS40, HBA1, HBA2, HBZUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
2263α-ZFHBA1ExactS0585-SP0043-L0949318096-L2252019233-L2531315859-L21960ExactNC_000016.10:g.174046_192396delCausative34909No other BP definedNo other BP definedOut of locus174046No other BP definedNo other BP defined19239616α-locus
2264--BrazilHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617613-L23601No probeRangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes55799986613106373716α-locus
2265--PVHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617613-L23601No probeRangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes557991625950174047316α-locus
2266--HNHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617613-L23601No probeRangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes557991923864193905716α-locus
2267--FTHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617613-L23601No probeRangeN/ACausativeBP extends beyond the MLPA probesOut of locusOut of locusOut of locusBP extends beyond the MLPA probes557991857769189027516α-locus
2268--BAHS40, HBA1, HBA2, HBZExactNo probe19236-L2531617613-L23601No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locusBP starts from the telomereNo other BP definedNo other BP defined77236916α-locus
2269--TNHS40, HBA1, HBA2, HBZExactNo probe19236-L2531617613-L23601No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locusBP starts from the telomereNo other BP definedNo other BP defined97670916α-locus
2270--BOHS40, HBA1, HBA2, HBZExactNo probe19236-L2531617613-L23601No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locusBP starts from the telomereNo other BP definedNo other BP defined189676116α-locus
2271--IMHS40, HBA1, HBA2, HBZExactNo probe19236-L2531617613-L23601No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locusBP starts from the telomereNo other BP definedNo other BP defined202164416α-locus
2272--LINHS40, HBA1, HBA2, HBZExactNo probe19236-L2531617613-L23601No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locusBP starts from the telomereNo other BP definedNo other BP defined202365516α-locus
2273--GSHS40, HBA1, HBA2, HBZUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
2283South-ItalyHBBExact18251-L2700318253-L2296205824-L0532818108-SP0126-L15076ExactNC_000011.10:g.5164564_5230714delCausative66902No other BP definedNo other BP definedOut of locus5164564No other BP definedNo other BP defined523071411β-locus
2418Swiss (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
RangeNo probe18244-L2295318247-SP0630-L27000No probeRangeNC_000011.10:g.(4002734_4002784)_ (6907712_6907762)delCausativeOut of locusOut of locusOut of locusOut of locus400273440027846907712690776211β-locus
2419Senegalese δ(0)β(+)HBB, HBDRange11883-L1268311883-L1268321235-L2961121555-L30397RangeNG_000007.3:g.(63154_63209)_(70570_70625)del7417Causative63154632097057070625522699152270465234407523446211β-locus
2430203 bp deletionHBA2Exact04633-L2374815857-L21812S0585-SP0043-L0949318096-L22520ExactNG_000006.1:g.34305_34507del203Causative34305No other BP definedNo other BP defined34507173442No other BP definedNo other BP defined17364416α-locus
247521.9 kb deletion with 29 bp insertionHBA2, HBZExact17214-SP0457-L2048904624-L0400408494-L0841714855-L23604ExactNG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT]Causative14373No other BP definedNo other BP defined36299153502No other BP definedNo other BP defined17543616α-locus
24791992 bp deletionLCRBRange06395-L0531521238-L3018121238-L3018121240-L29616RangeNG_000007.3:g.(11834_11835)_(13826_13827)del1992Neutral11834118351382613827528378952837905285781528578211β-locus
249749.98 kb (δβ)0 Indian delHBB, HBBP1, HBDRange18251-L2700318253-L2296206400-L0532318248-SP0631-L27002RangeN/ACausative53349No data availableNo data availableOut of locus5194285No data availableNo data available524426711β-locus
249886.7 kb (Αγδβ)0 Indian delHBB, HBBP1, HBD, HBG1Exact18251-L2700318253-L2296221230-L30179*05817-L05321ExactN/ACausative46786No other BP definedNo other BP definedOut of locus5164124No other BP definedNo other BP defined525083011β-locus
2548Inv-Del English VHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Exact21237-L2961221231-L29607**18249-L2423918247-SP0630-L27000ExactNC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965CausativeOut of locusNo other BP definedNo other BP defined490805253454No other BP definedNo other BP defined537596511β-locus
2550African I duplicationHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Exact05833-L0533511883-L1268318249-L2423918247-SP0630-L27000ExactNC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677NeutralOut of locusNo other BP definedNo other BP defined707315226885No other BP definedNo other BP defined537267711β-locus
2551Austrian IHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
2554-α28.5HBA2, HBZExact04926-L2388604622-L0400118880-L2442808494-L08417ExactNG_000006.1g.7065_35627del28563Causative7065No other BP definedNo other BP defined35627146202No other BP definedNo other BP defined17476416α-locus
2555α12HBA1, HBA2UnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
2561Triplicated α (anti-3.7)HBA1, HBA2RangeS0585-SP0043-L0949318096-L2252008494-L0841714855-L23604RangeN/AModifier3448034498363173639117361717363517550817552816α-locus
2562(αα)HS40delHS40UnknownUnknownUnknownUnknownUnknownUnknownchr16:g.(?_103,625)_163,701_193,676)delCausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
2566CaribbeanLCRBExact06395-L0531506395-L0531505806-L2254205804-L27001ExactNG_000007.3:g.8510_13369delCausative8510No other BP definedNo other BP defined133695284241No other BP definedNo other BP defined528910011β-locus
2567BS duplicationHS40, HBA1, HBA2, HBZRange19236-L2531604799-L0479717613-L23601No probeRangeN/AModifierOut of locusOut of locusOut of locusOut of locus8558510057936091541035416α-locus
2568FD duplicationHS40, HBA1, HBA2, HBZExact19236-L2531604799-L0479719233-L2531315859-L21960RangeN/AModifierOut of locusNo other BP definedOut of locusOut of locus55826No other BP defined18584018759416α-locus
2569Triplicated α (anti-4.2)HBA1, HBA2Range18090-L0841518098-L22522S0585-SP0043-L0949318096-L22520RangeN/AModifier3195731978345253454417109417111517366217368116α-locus
2570Sardinian duplicationHS40, HBA1, HBA2, HBZUnknownUnknownUnknownUnknownUnknownUnknownN/AModifierNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
3018--NORHBA1, HBA2Exact18090-L0841518098-L2252219233-L2531315859-L21960ExactNC_000016.10:g.170678_184085delCausative31541No other BP definedNo other BP definedOut of locus170678No other BP definedNo other BP defined18408516α-locus
3020--DANEHBA1, HBA2, HBZExact04926-L2388604622-L0400104638-L2360204639-L04020ExactNG_000006.1: g.8800_40007del31208Causative8800No other BP definedNo other BP defined40007147938No other BP definedNo other BP defined17914416α-locus
3021--JALHBA1, HBA2, HBZRange04622-L0400117214-SP0457-L2048904638-L2360204639-L04020RangeN/ACausative1030010345404584051714943714948217959517965416α-locus
3022--LODHS40, HBA1, HBA2, HBZRangeNo probe19236-L2531617227-L2055418102-L20488RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus453494539326228626233016α-locus
3067--MEX1HBA1, HBA2Range18092-L2251618881-L0628804639-L0402019233-L25313RangeN/ACausative3311433812406494202117225117294917978618115816α-locus
3068--MEX2HS40, HBA1, HBA2, HBZRange04799-L0479704800-L0417517227-L2055418102-L20488RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus11377513054220816124956016α-locus
3070αααα282HS40, HBA1, HBA2, HBZ, NPRL3ExactNo probe19236-L2531615859-L2196017227-L20554ExactNC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200]ModifierOut of locusNo other BP definedNo other BP definedOut of locus10001No other BP definedNo other BP defined23220016α-locus
3071--235HS40, HBA1, HBA2, HBZ, NPRL3ExactNo probe19236-L2531619233-L2531315859-L21960ExactNC_000016.10:g.10001_185264delCausativeOut of locusNo other BP definedNo other BP definedOut of locus10001No other BP definedNo other BP defined18526416α-locus
3072125 bp deletionHBA1ExactNo probeNo probeNo probeNo probeExactNG_000006.1: g.37040_37164delNeutral37040No other BP definedNo other BP defined37164176177No other BP definedNo other BP defined17630116α-locusThis is a special case where MLPA probes could not be detected due to the size of the deletion.
3073Italian (εγδβ)0 deletionHBB, HBBP1, HBD, HBE1, HBG1, HBG2Exact18251-L2700318253-L2296218249-L2423918247-SP0630-L27000ExactNC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]CausativeOut of locusNo other BP definedNo other BP definedOut of locus5194397No other BP definedNo other BP defined535719211β-locus
3074(αα)JXHS40Exact19236-L2531604799-L0479704800-L0417504926-L23886ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus113161No other BP definedNo other BP defined11390216α-locus
3076αααα391HS40, HBA1, HBA2, HBZ, NPRL3Exact19236-L2531604799-L0479717613-L23601No probeExactNC_000016.10:g.101440_492029dupCausativeOut of locusNo other BP definedNo other BP definedOut of locus101440No other BP definedNo other BP defined49202916α-locus
3112African II duplicationHBB, HBBP1, HBD, HBE1, HBG1, HBG2Exact18244-L2295318246-L3018005815-L0531905813-L05317ExactNC_000011.9:g.5290168_5290169ins4640332_(5201300_5204930) ins(5237420_5243270)_5290168Neutral28678No other BP definedNo other BP definedOut of locus4619102No other BP definedNo other BP defined526893811β-locus
3142-α6.3HBA2Exact18097-L2252118090-L0841518093-L2251718099-L22524ExactNG_000006.1:g.31022_37366del6344Causative31022No other BP definedNo other BP defined37366170159No other BP definedNo other BP defined17650316α-locus
321444.6 kb deletionHBA1, HBA2, HBM, HBZExact04926-L2388604622-L0400119233-L2531315859-L21960ExactNC_000016.10:g.144215_188841delCausative5078No other BP definedNo other BP definedOut of locus144215No other BP definedNo other BP defined18884116α-locus
3215--BrazHBA1, HBA2Range04637-L0401818097-L2252118102-L2048817212-L13393RangeN/ACausative2816830716Out of locusOut of locus16730516985323988427179416α-locus
3244−KOZANIHBA1, HBA2, HBZRange04799-L0479704800-L0417517613-L23601No probeRangeN/ACausativeOut of locus4501Out of locus0113686143638407521BP extends beyond the MLPA probes16α-locus
3255--MEX3HBA1, HBA2, HBM, HBZExact04622-L0400117214-SP0457-L2048919233-L2531315859-L21960ExactNC_000016.10:g.151479_182582delCausative12342No other BP definedNo other BP definedOut of locus151479No other BP definedNo other BP defined18258216α-locus
3258--NFLDHBA1, HBA2Exact04637-L0401818097-L2252117227-L2055418102-L20488ExactNC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCACausative30060No other BP definedNo other BP definedOut of locus169197No other BP definedNo other BP defined25991916α-locus
3265α-globin cluster triplicationHS40, HBA1, HBA2, HBM, HBZRange19236-L2531604799-L0479715859-L2196017227-L20554RangeN/AModifierOut of locusOut of locusOut of locusOut of locus5332211353018120320633716α-locus
3268811 bp deletionHBA2Exact18098-L2252218092-L2251618092-L2251618092-L22516ExactNG_000006.1:g.32945_33755Causative32945No other BP definedNo other BP defined33755172082No other BP definedNo other BP defined17289216α-locus
3270Chinese I (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
OR51V1
Exact18244-L2295318246-L3018005813-L0531712189-L30182ExactNC_000011.10:g.5036736_5270337del Causative27279No other BP definedNo other BP definedOut of locus5036736No other BP definedNo other BP defined527033711β-locus
3273--VSHS40, AXIN1, HBA1, HBA2, HBM, HBZExact19236-L2531604799-L0479717613-L23601No probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus100364No other BP definedNo other BP defined98685116α-locus
3274--CBRHS40, HBA1, HBA2, HBM, HBZRangeNo probe19236-L2531604639-L0402019233-L25313RangeN/ACausativeBP extends beyond the MLPA probesOut of locus3875640678BP extends beyond the MLPA probes5332217789317981516α-locus
3275(αα)ALTHS40ExactNo probeNo probeNo probeNo probeExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus103193No other BP definedNo other BP defined10655316α-locusThis is a special case where MLPA probes could not be detected due to the size of the deletion.
3277538 bp deletionHBBExact11883-L1268311883-L1268305827-L0631911982-L24242ExactHBB:c.-464_74del | NG_000007.3:g.70131_70668delCausative70131No other BP definedNo other BP defined706685226948No other BP definedNo other BP defined522748511β-locus
3283--JSHBA1, HBA2Exact18880-L2442808494-L0841715857-L2181208499-L23594ExactN/ACausative35801No other BP definedNo other BP defined38338174938No other BP definedNo other BP defined17747516α-locus
3284--PGHS40, AXIN1, HBA1, HBA2, HBM, HBZ,
NPRL3
Exact19236-L2531604799-L0479717613-L23601No probeExactNG_000006.1:g.93628_542759del450131CausativeOut of locusNo other BP definedNo other BP definedOut of locus93628No other BP definedNo other BP defined54275916α-locus
329215 kb deletionHBA1, HBA2, HBMExact18092-L2251618881-L0628819233-L2531315859-L21960ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus172736No other BP definedNo other BP defined18793516α-locus
329397 kb deletionHS40Exact19236-L2531604799-L0479717214-SP0457-L2048904624-L04004ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus56407No other BP definedNo other BP defined15367816α-locus
329422 kb deletionHBA1, HBA2, HBMExact04637-L0401818097-L2252119233-L2531315859-L21960ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus169488No other BP definedNo other BP defined19121516α-locus
3295225 kb deletionHS40, HBA1, HBA2, HBM, HBZExact19236-L2531604799-L0479718102-L2048817212-L13393ExactN/ACausativeOut of locusNo other BP definedNo other BP definedOut of locus56407No other BP definedNo other BP defined28180516α-locus
3296--GBHBA1, HBA2, HBMRange04622-L0400117214-SP0457-L2048904639-L0402019233-L25313RangeN/ACausative1320823659386894196315234516279617782618110016α-locus
3307N/AHBB, HBDExact11883-L1268305828-L0533221235-L2961121555-L30397ExactNG_000007.3:g.[63191_70603dup;63291_70703del]Causative63191No other BP definedNo other BP defined706035227013No other BP definedNo other BP defined523442511β-locus
3327--GXHS40, HBA1, HBA2, HBM, HBZ, NPRL3RangeNo probe19236-L2531617227-L2055418102-L20488RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus414924362824788825416716α-locus
3340Brazilian (εγδβ)0HBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB, OR51B2, OR51V1
Range18246-L3018018251-L2700318249-L2423918247-SP0630-L27000RangeN/ACausativeOut of locusOut of locusOut of locusOut of locus510649851518365324046539013511β-locus
33609.7 kb deletionHBA1, HBA2Exact18090-L0841518098-L2252219233-L2531315859-L21960ExactNG_000006.1:g.32709_42418delCausative32709No other BP definedNo other BP defined42418171846No other BP definedNo other BP defined18155516α-locus
3390βδβ hybridHBB, HBDUnknownUnknownUnknownUnknownUnknownUnknownN/ACausativeNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
33933.5 kb deletionHBBExact11980-L1280305836-L0632105827-L0631911982-L24242ExactNC_000011.10:g.5224302-5227791del3490bpCausative69825No other BP definedNo other BP defined733145224302No other BP definedNo other BP defined522779111β-locus
3394223 kb deletionHBB, HBDExact18244-L2295318246-L3018018108-SP0126-L1507621235-L29611ExactNC_000011.10:g.5010012_5232933del Causative64683No other BP definedNo other BP definedOut of locus5010012No other BP definedNo other BP defined523293311β-locus
3407(αα)JSHS40, NPRL3ExactNo probe19236-L2531604800-L0417504926-L23886ExactNC_000016.10:g.46628_126325delCausativeOut of locusNo other BP definedNo other BP definedOut of locus46628No other BP definedNo other BP defined12632516α-locus
3408--60.2HBA1, HBA2, HBM, HBZExact04926-L2388604622-L0400115859-L2196017227-L20554ExactNC_000016.10:g.147589_207883delCausative8452No other BP definedNo other BP definedOut of locus147589No other BP definedNo other BP defined20788316α-locus
3432Hkααα3.7 hybrid, HBA1, HBA2UnknownUnknownUnknownUnknownUnknownUnknownN/ANeutralNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
3433anti-HkααHBA1, HBA2UnknownUnknownUnknownUnknownUnknownUnknownN/ANeutralNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available16α-locus
3440-αMAL3.5HBA2Exact18090-L0841518098-L2252208494-L0841714855-L23604ExactNG_000006.1:g.32745_36301delCausative32745No other BP definedNo other BP defined36301171882No other BP definedNo other BP defined17543816α-locus
3514170 kb deletionAXIN1, HBA1, HBA2Exact18092-L2251618881-L0628817212-L1339317613-L23601ExactN/ACausative33739No other BP definedNo other BP definedOut of locus172876No other BP definedNo other BP defined35522616α-locus
35701.78Mb εγδβ(0) delHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
RangeNo probe18244-L2295318247-SP0630-L27000No probeRangeNC_000011.10:g.(4302665_4322227)_(6099443_6100105)delCausativeOut of locusOut of locusOut of locusOut of locus430266543222276099443610010511β-locus
357759 Kb deletionHBE1, HBG1, HBG2, LCRBExact21555-L3039705821-L0632705804-L2700118249-L24239ExactNC_000011.10:g.5236469_5295261delCausative2355No other BP definedNo other BP defined611475236469No other BP definedNo other BP defined529526111β-locus
35782.2 Mb deletionHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
ExactNo probe18244-L2295318247-SP0630-L27000No probeExactNC_000011.10:g.4052720_6253287delCausativeOut of locusNo other BP definedNo other BP definedOut of locus4052720No other BP definedNo other BP defined625328711β-locus
3588--OYHS40, HBA1, HBA2, HBZExactNo probe19236-L2531617212-L1339317613-L23601ExactNC_000016.10:g.0_318541delCausativeOut of locusNo other BP definedNo other BP definedOut of locusBP starts from the telomereNo other BP definedNo other BP defined31854116α-locus
3595--CRHBA1, HBA2, HBM, HBZExact04926-L2388604622-L0400119233-L2531315859-L21960ExactNC_000016.10:g.144215_188843delCausative5078No other BP definedNo other BP definedOut of locus144215No other BP definedNo other BP defined18884316α-locus
3596Gγ duplicationHBG2UnknownUnknownUnknownUnknownUnknownUnknownN/ANeutralNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data availableNo data available11β-locus
3603-α6.9HBA2Exact04637-L0401818097-L2252114855-L2360418093-L22517ExactNG_000006.1:g.29785_36746delCausative29785No other BP definedNo other BP defined36746168922No other BP definedNo other BP defined17588316α-locus
3606177 Kb deletionHBBP1, HBE1, HBG1, HBG2, LCRB,
OR51B2, OR51B5, OR51B6, OR51M1
Exact05821-L0632721239-L2961518247-SP0630-L27000No probeExactNC_000011.10:g.5241050_5418009delCausativeOut of locusNo other BP definedNo other BP defined565665241050No other BP definedNo other BP defined541800911β-locus
360763 Kb deletionHBA1, HBA2, HBZRange04800-L04175Unknown15859-L2196017227-L20554RangeNC_000016.10:g.(143655_149367)_(181204_206338)delCausative45181023042067Out of locus14365514936718120420633816α-locus
3622--71.8 (71.8 Kb deletion)HBA1, HBA2, HBZExact04800-L0417504926-L2388615859-L2196017227-L20554ExactNC_000016.10:g.138971_210817delCausativeOut of locusNo other BP definedNo other BP definedOut of locus138971No other BP definedNo other BP defined21081716α-locus
3663HS-40 deletionHS40Range19236-L2531604799-L0479704800-L0417504926-L23886RangeNC_000016.10:g.(47217_113592)_(113687_143639)delCausativeOut of locusOut of locusOut of locusOut of locus4721711359211368714363916α-locus
3711(αα)54 Kb deletionHS40Exact19236-L2531604799-L0479704926-L2388604622-L04001ExactNC_000016.10:g.94096_147948delCausativeOut of locusNo other BP definedNo other BP definedOut of locus94096No other BP definedNo other BP defined14794816α-locus
3792N/AHBB, HBDExact21234-L2961005828-L0533221235-L2961121555-L30397ExactNG_000007.3:g.63154_70565delCausative63154No other BP definedNo other BP defined705655227051No other BP definedNo other BP defined523446211β-locus
3821--196HS40, HBA1, HBA2, HBM, HBZExactNo probe19236-L2531617227-L2055418102-L20488RangeNC_000016.10:g.35880_(232158_243266)delCausativeOut of locusNo other BP definedOut of locusOut of locus35880No other BP defined23215824326616α-locus
3822--227HS40, HBA1, HBA2, HBM, HBZExactNo probe19236-L2531617227-L2055418102-L20488RangeNC_000016.10:g.35880_(262740_268502)delCausativeOut of locusNo other BP definedOut of locusOut of locus35880No other BP defined26274026850216α-locus
382360 kb deletionHBBExact18251-L2700318253-L2296211982-L2424205824-L05328RangeNC_000011.10:g.5167971_5228123delinsACausative69493No other BP definedOut of locusOut of locus5167971No other BP definedNo other BP defined522812311β-locus
383578.9 kb Gγ(Aγδβ)0 delHBB, HBBP1, HBD, HBG1,
OR52Z1-OR51V1
Exact18251-L2700318253-L2296221237-L2961321231-L29607**ExactNC_000011.10:g.5169895_5248821delins5216274_5216309Causative81343No other BP definedNo other BP definedOut of locus5169895No other BP definedNo other BP defined524882111β-locus
3849~72 kb εγδβ(0) delHBB, HBBP1, HBD, HBE1, HBG1, HBG2,
LCRB
Range18253-L2296211980-L1280305804-L2700118249-L24239RangeNC_000011.10:g.(5200032_5215881)_(5288356_5295076)delCausative25409260Out of locusOut of locus520003252158815288356529507611β-locus
3867>6.5 Kb deletionHBB, HBDRange13619-L1507305833-L0533521555-L3039705821-L06327RangeNG_000007.3:g.(63032_64585)_(71150_72080)delCausative63032645857115072080522553652264665233031523458411β-locus
3868>35.3 Kb deletionHBBP1, HBD, HBE1, HBG1, HBG2Range21235-L2961121555-L3039712189-L3018206395-L05315RangeNG_000007.3:g.(21655_27675)_(63032_64586)delCausative21655276756303264586523303052345825269941527596111β-locus
3869>29.5 Kb duplicationHBB, HBBP1, HBD, HBG1, HBG2Range13619-L1507305833-L0533505813-L0531712189-L30182RangeNG_000007.3:g.(27675_41485)_(71150_72080)dupCausative27675414857115072080522553652264665256131526994111β-locus

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