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dbVar

Database of genomic structural variation

nsv4681292

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:225,252

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: 566 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):32,216,906-32,442,157

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681292	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,216,906	32,442,157
nsv4681292	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,235,023	32,460,274

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213322	duplication	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Uncertain significance	ClinVar	RCV001031486.7, VCV000830888.7
nssv16214154	deletion	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001032697.6, VCV000832183.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213322	Remapped	Perfect	NC_000023.11:g.(?_ 32216906)_(3244215 7_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,216,906	32,442,157
nssv16214154	Remapped	Perfect	NC_000023.11:g.(?_ 32216906)_(3244215 7_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,216,906	32,442,157
nssv16213322	Submitted genomic		NC_000023.10:g.(?_ 32235023)_(3246027 4_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	32,235,023	32,460,274
nssv16214154	Submitted genomic		NC_000023.10:g.(?_ 32235023)_(3246027 4_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	32,235,023	32,460,274

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
nssv16213322	GRCh37: NC_000023.10:g.(?_32235023)_(32460274_?)dup	duplication	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Uncertain significance	ClinVar	RCV001031486.7, VCV000830888.7
nssv16214154	GRCh37: NC_000023.10:g.(?_32235023)_(32460274_?)del	deletion	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001032697.6, VCV000832183.6

No genotype data were submitted for this variant

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