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dbVar

Database of genomic structural variation

nsv4683858

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:195,314

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: 519 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):32,216,906-32,412,219

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683858	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,216,906	32,412,219
nsv4683858	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,235,023	32,430,336

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213664	duplication	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Uncertain significance	ClinVar	RCV001031982.1, VCV000831426.1
nssv17972757	deletion	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001985240.5, VCV001445783.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213664	Remapped	Perfect	NC_000023.11:g.(?_ 32216906)_(3241221 9_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,216,906	32,412,219
nssv17972757	Remapped	Perfect	NC_000023.11:g.(?_ 32216906)_(3241221 9_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,216,906	32,412,219
nssv16213664	Submitted genomic		NC_000023.10:g.(?_ 32235023)_(3243033 6_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	32,235,023	32,430,336
nssv17972757	Submitted genomic		NC_000023.10:g.(?_ 32235023)_(3243033 6_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	32,235,023	32,430,336

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
nssv16213664	GRCh37: NC_000023.10:g.(?_32235023)_(32430336_?)dup	duplication	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Uncertain significance	ClinVar	RCV001031982.1, VCV000831426.1
nssv17972757	GRCh37: NC_000023.10:g.(?_32235023)_(32430336_?)del	deletion	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001985240.5, VCV001445783.5

No genotype data were submitted for this variant

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