Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6634328

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex substitution
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:663,931

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: 1775 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):129,283,372-129,947,302

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6634328	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	129,283,372	129,403,293	129,854,780	129,947,302
nsv6634328	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	129,604,517	129,724,438	130,175,925	130,268,447

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326307	complex substitution	Multiple	Multiple	LAMA2-Related Muscular Dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23	Pathogenic	ClinVar	RCV002294569.1, VCV001712295.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326307	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	129,283,372	129,403,293	129,854,780	129,947,302
nssv18326307	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	129,604,517	129,724,438	130,175,925	130,268,447

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326307	complex substitution	maternal	LAMA2-Related Muscular Dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23	Pathogenic	ClinVar	RCV002294569.1, VCV001712295.1

No genotype data were submitted for this variant

You are here: NCBI