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dbVar

Database of genomic structural variation

nsv3881390

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:210,708

Description:
See descriptions for individual calls in download files
Publication(s):Achermann et al. 2001, American Academy of Pediatrics Section on Cardiology and Cardiac Surgery et al. 2005, Birnkrant et al. 2007, Birnkrant et al. 2010, Birnkrant et al. 2018, Birnkrant et al. 2018, Birnkrant et al. 2018, Bushby et al. 2009, Bushby et al. 2009, Darras et al. 2000, Gloss et al. 2016, Moxley et al. 2005

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 723 SVs from 65 studies. See in: genome view

Submitted genomic32,809,493-33,020,200

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3881390	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000023.11	ChrX	32,809,493	33,020,200
nsv3881390	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000023.10	ChrX	32,827,610	33,038,317

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15130123	deletion	Multiple	Multiple	Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy	Pathogenic	ClinVar	RCV000616300.4, VCV000505317.4
nssv15150574	duplication	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV000463343.1, VCV000417503.1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15130123	Submitted genomic	NC_000023.11:g.(?_ 32809493)_(3302020 0_?)del	GRCh38 (hg38)	NC_000023.11	ChrX	32,809,493	33,020,200
nssv15150574	Submitted genomic	NC_000023.11:g.(?_ 32809493)_(3302020 0_?)dup	GRCh38 (hg38)	NC_000023.11	ChrX	32,809,493	33,020,200
nssv15130123	Submitted genomic	NC_000023.10:g.(?_ 32827610)_(3303831 7_?)del	GRCh37 (hg19)	NC_000023.10	ChrX	32,827,610	33,038,317
nssv15150574	Submitted genomic	NC_000023.10:g.(?_ 32827610)_(3303831 7_?)dup	GRCh37 (hg19)	NC_000023.10	ChrX	32,827,610	33,038,317

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15130123	GRCh37: NC_000023.10:g.(?_32827610)_(33038317_?)del, GRCh38: NC_000023.11:g.(?_32809493)_(33020200_?)del	deletion	germline	Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy	Pathogenic	ClinVar	RCV000616300.4, VCV000505317.4
nssv15150574	GRCh37: NC_000023.10:g.(?_32827610)_(33038317_?)dup, GRCh38: NC_000023.11:g.(?_32809493)_(33020200_?)dup	duplication	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV000463343.1, VCV000417503.1

No genotype data were submitted for this variant

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