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dbVar

Database of genomic structural variation

nsv4683573

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:13,218

Description:
See descriptions for individual calls in download files
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: 107 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):129,353,154-129,366,371

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683573	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	129,353,154	129,366,371
nsv4683573	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	129,674,299	129,687,516

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213592	duplication	Multiple	Multiple	LAMA2-Related Muscular Dystrophy; Laminin alpha 2-related dystrophy	Likely pathogenic	ClinVar	RCV001031881.1, VCV000831316.1
nssv17971411	deletion	Multiple	Multiple	LAMA2-Related Muscular Dystrophy; Laminin alpha 2-related dystrophy	Pathogenic	ClinVar	RCV001953793.4, VCV001457504.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213592	Remapped	Perfect	NC_000006.12:g.(?_ 129353154)_(129366 371_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	129,353,154	129,366,371
nssv17971411	Remapped	Perfect	NC_000006.12:g.(?_ 129353154)_(129366 371_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	129,353,154	129,366,371
nssv16213592	Submitted genomic		NC_000006.11:g.(?_ 129674299)_(129687 516_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	129,674,299	129,687,516
nssv17971411	Submitted genomic		NC_000006.11:g.(?_ 129674299)_(129687 516_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	129,674,299	129,687,516

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
nssv16213592	GRCh37: NC_000006.11:g.(?_129674299)_(129687516_?)dup	duplication	germline	LAMA2-Related Muscular Dystrophy; Laminin alpha 2-related dystrophy	Likely pathogenic	ClinVar	RCV001031881.1, VCV000831316.1
nssv17971411	GRCh37: NC_000006.11:g.(?_129674299)_(129687516_?)del	deletion	germline	LAMA2-Related Muscular Dystrophy; Laminin alpha 2-related dystrophy	Pathogenic	ClinVar	RCV001953793.4, VCV001457504.4

No genotype data were submitted for this variant

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