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dbVar

Database of genomic structural variation

nsv7098408

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:205,729

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: 602 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):32,644,112-32,849,840

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098408	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,644,112	32,849,840
nsv7098408	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,662,229	32,867,957

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788373	deletion	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV003107815.2, VCV002424830.3
nssv18792251	duplication	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV003109345.1, VCV002424858.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788373	Remapped	Perfect	NC_000023.11:g.(?_ 32644112)_(3284984 0_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,644,112	32,849,840
nssv18792251	Remapped	Perfect	NC_000023.11:g.(?_ 32644112)_(3284984 0_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,644,112	32,849,840
nssv18788373	Submitted genomic		NC_000023.10:g.(?_ 32662229)_(3286795 7_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	32,662,229	32,867,957
nssv18792251	Submitted genomic		NC_000023.10:g.(?_ 32662229)_(3286795 7_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	32,662,229	32,867,957

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
nssv18788373	GRCh37: NC_000023.10:g.(?_32662229)_(32867957_?)del	deletion	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV003107815.2, VCV002424830.3
nssv18792251	GRCh37: NC_000023.10:g.(?_32662229)_(32867957_?)dup	duplication	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV003109345.1, VCV002424858.3

No genotype data were submitted for this variant

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