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Showing all Duplications (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3937	188.7 kb dup	N/A	NC_000016.10:g.62166_250991del	NPRL3, HBM, α1, α2, ζ, HS40	Modifier	N/A	NG_000006.1
3939	~274 kb dup	N/A	N/A	HS40, ζ, AXIN1, HBM, NPRL3, α1, α2	Modifier	N/A	NG_000006.1
3938	120.5 kb dup	N/A	NC_000016.10:g.98546_219042del	HBM, NPRL3, α1, α2, ζ, HS40	Modifier	N/A	NG_000006.1
3265	α-globin cluster triplication	N/A	NC_000016.10:g.(53322_113530)_(181203_206337)dup	HBM, α1, α2, HS40, ζ	Modifier	α-thalassaemia	NG_000006.1
4014	αααα(159)	N/A	NC_000016.10:g.(63142_63147)_(222524_222529)dup	α2, HBM, NPRL3, α1, ζ	Modifier	α-thalassaemia	NG_000006.1
4101	αααα(165)	N/A	NC_000016.10:g.59867_224557dup	NPRL3, α1, α2, ζ, HS40, HBM	Modifier	N/A	NG_000006.1
4010	αααα(anti-3.7)	N/A	N/A	α1, α2	Modifier	α-thalassaemia	NG_000006.1
2568	FD duplication	N/A	NC_000016.10:g.55826_(185840_187594)dup	α2, α1, ζ, HS40	Modifier	α-thalassaemia	NG_000006.1
3070	αααα282 (αααα222)	N/A	NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200]	α1, α2, ζ, HS40, NPRL3	Modifier	α-chain variant	NG_000006.1
2570	Sardinian duplication	N/A	N/A	α1, α2, ζ, HS40	Modifier	α-thalassaemia	NG_000006.1
2569	ααα(anti-4.2) (Triplicated α (anti-4.2))	N/A	NG_000006.1:g.(31957_31978)_(34525_34544)dup	α2	Modifier	Anaemia	NG_000006.1
2567	BS duplication	N/A	NC_000016.10:g.(85585_100579)_ (360915_410354)dup	α1, α2, ζ, HS40	Modifier	α-thalassaemia	NG_000006.1
2561	ααα(anti-3.7) (Triplicated α (anti-3.7))	N/A	NG_000006.1:g.34247_38050dup	α1, α2	Modifier	α-thalassaemia, Anaemia	NG_000006.1
3076	αααα391	N/A	NC_000016.10:g.101440_492029dup	HS40, NPRL3, α1, α2, ζ	Modifier	α-chain variant	NG_000006.1
3112	African II duplication	N/A	NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938	Gγ, δ, ε, Aγ, pseudo β, β	Neutral	N/A	NG_000007.3
2550	African I duplication	N/A	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3	0
3869	>29.5 Kb duplication	N/A	NG_000007.3:g.(27675_41485)_(71150_72080)dup	pseudo β, Aγ, Gγ, δ, β	Causative	β-thalassaemia	NG_000007.3	41485
3596	Gγ duplication (-Gγ-Gγ-, HBG2 duplication)	N/A	NG_000007.3:g.(41526_42954)_(48036_49186)del	Gγ	Neutral	N/A	NG_000007.3	41526
2190	CD 62-83 (+65 bp)	N/A	HBB:c.187_251dup	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70911
4113	CD 119-121 (+8 bp)	Hb Nanjing	HBB:c.358_365dup	β	Causative	β-thalassaemia	NG_000007.3	71932

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