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dbVar

Database of genomic structural variation

nsv6313067

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:157,485

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: 458 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):31,679,355-31,836,839

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313067	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,679,355	31,836,839
nsv6313067	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,697,472	31,854,956

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971705	deletion	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001958861.5, VCV001459160.6
nssv18789696	duplication	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Uncertain significance	ClinVar	RCV003113343.2, VCV002424978.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971705	Remapped	Perfect	NC_000023.11:g.(?_ 31679355)_(3183683 9_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,679,355	31,836,839
nssv18789696	Remapped	Perfect	NC_000023.11:g.(?_ 31679355)_(3183683 9_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,679,355	31,836,839
nssv17971705	Submitted genomic		NC_000023.10:g.(?_ 31697472)_(3185495 6_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,697,472	31,854,956
nssv18789696	Submitted genomic		NC_000023.10:g.(?_ 31697472)_(3185495 6_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	31,697,472	31,854,956

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
nssv17971705	GRCh37: NC_000023.10:g.(?_31697472)_(31854956_?)del	deletion	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001958861.5, VCV001459160.6
nssv18789696	GRCh37: NC_000023.10:g.(?_31697472)_(31854956_?)dup	duplication	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Uncertain significance	ClinVar	RCV003113343.2, VCV002424978.3

No genotype data were submitted for this variant

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