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dbVar

Database of genomic structural variation

nsv3913979

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:62,863

Description:Single allele AND multiple conditions
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, Narayanaswami et al. 2014

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: 331 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):31,773,960-31,836,822

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3913979	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,773,960	31,836,822
nsv3913979	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,792,077	31,854,939

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15147760	deletion	Multiple	Multiple	Becker muscular dystrophy; Becker muscular dystrophy; Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, BECKER TYPE; BMD; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV000415202.1, VCV000374372.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15147760	Remapped	Perfect	NC_000023.11:g.(?_ 31773960)_(3183682 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,773,960	31,836,822
nssv15147760	Submitted genomic		NC_000023.10:g.(?_ 31792077)_(3185493 9_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,792,077	31,854,939

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
nssv15147760	GRCh37: NC_000023.10:g.(?_31792077)_(31854939_?)del	deletion	maternal	Becker muscular dystrophy; Becker muscular dystrophy; Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, BECKER TYPE; BMD; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV000415202.1, VCV000374372.1

No genotype data were submitted for this variant

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