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dbVar

Database of genomic structural variation

nsv6634326

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:82,655

Description:Single allele AND Muscular dystrophy, limb-girdle, autosomal recessive 23
Publication(s):Quijano-Roy et al. 2012

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: 259 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):129,054,995-129,137,649

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6634326	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	129,054,995	129,137,649
nsv6634326	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	129,376,140	129,458,794

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326306	deletion	Multiple	Multiple	LAMA2-Related Muscular Dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23	Pathogenic	ClinVar	RCV002294568.1, VCV001712294.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18326306	Remapped	Perfect	NC_000006.12:g.129 054995_129137649de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	129,054,995	129,137,649
nssv18326306	Submitted genomic		NC_000006.11:g.129 376140_129458794de l	GRCh37 (hg19)		NC_000006.11	Chr6	129,376,140	129,458,794

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
nssv18326306	GRCh37: NC_000006.11:g.129376140_129458794del	deletion	paternal	LAMA2-Related Muscular Dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23	Pathogenic	ClinVar	RCV002294568.1, VCV001712294.1

No genotype data were submitted for this variant

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