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dbVar

Database of genomic structural variation

nsv6310390

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:1,890

Description:NC_000017.10:g.(?_48243138)_(48245027_?)del AND Autosomal recessive limb-girdle muscular dystrophy type 2D

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: 121 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):50,165,777-50,167,666

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310390	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	50,165,777	50,167,666
nsv6310390	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	48,243,138	48,245,027

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968699	deletion	Multiple	Multiple	Autosomal recessive limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy, type 2D; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001941832.5, VCV001454362.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968699	Remapped	Perfect	NC_000017.11:g.(?_ 50165777)_(5016766 6_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	50,165,777	50,167,666
nssv17968699	Submitted genomic		NC_000017.10:g.(?_ 48243138)_(4824502 7_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	48,243,138	48,245,027

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
nssv17968699	GRCh37: NC_000017.10:g.(?_48243138)_(48245027_?)del	deletion	germline	Autosomal recessive limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy, type 2D; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001941832.5, VCV001454362.6

No genotype data were submitted for this variant

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