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dbVar

Database of genomic structural variation

nsv6310180

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:696

Description:NC_000017.10:g.(?_48252608)_(48253303_?)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: 115 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):50,175,247-50,175,942

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310180	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	50,175,247	50,175,942
nsv6310180	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	48,252,608	48,253,303

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975107	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	Uncertain significance	ClinVar	RCV001938129.5, VCV001408742.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17975107	Remapped	Perfect	NC_000017.11:g.(?_ 50175247)_(5017594 2_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	50,175,247	50,175,942
nssv17975107	Submitted genomic		NC_000017.10:g.(?_ 48252608)_(4825330 3_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	48,252,608	48,253,303

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
nssv17975107	GRCh37: NC_000017.10:g.(?_48252608)_(48253303_?)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	Uncertain significance	ClinVar	RCV001938129.5, VCV001408742.6

No genotype data were submitted for this variant

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