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dbVar

Database of genomic structural variation

nsv6308959

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:182,389

Description:NC_000011.9:g.(?_111779478)_(111961866_?)dup AND Dilated cardiomyopathy 1II

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: 440 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):111,908,754-112,091,142

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6308959	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	111,908,754	112,091,142
nsv6308959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	111,779,478	111,961,866

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974678	duplication	Multiple	Multiple	CARDIOMYOPATHY, DILATED, 1II; CMD1II; Dilated cardiomyopathy 1II; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001916482.4, VCV001410524.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974678	Remapped	Perfect	NC_000011.10:g.(?_ 111908754)_(112091 142_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,908,754	112,091,142
nssv17974678	Submitted genomic		NC_000011.9:g.(?_1 11779478)_(1119618 66_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	111,779,478	111,961,866

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
nssv17974678	GRCh37: NC_000011.9:g.(?_111779478)_(111961866_?)dup	duplication	germline	CARDIOMYOPATHY, DILATED, 1II; CMD1II; Dilated cardiomyopathy 1II; Familial isolated dilated cardiomyopathy	Uncertain significance	ClinVar	RCV001916482.4, VCV001410524.4

No genotype data were submitted for this variant

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