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dbVar

Database of genomic structural variation

nsv6308960

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:539

Description:NC_000011.9:g.(?_111779488)_(111780026_?)del 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: 72 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):111,908,764-111,909,302

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6308960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	111,908,764	111,909,302
nsv6308960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	111,779,488	111,780,026

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971650	deletion	Multiple	Multiple	CARDIOMYOPATHY, DILATED, 1II; CMD1II; Dilated cardiomyopathy 1II; Familial isolated dilated cardiomyopathy	Pathogenic	ClinVar	RCV001958624.3, VCV001455522.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971650	Remapped	Perfect	NC_000011.10:g.(?_ 111908764)_(111909 302_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,908,764	111,909,302
nssv17971650	Submitted genomic		NC_000011.9:g.(?_1 11779488)_(1117800 26_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	111,779,488	111,780,026

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
nssv17971650	GRCh37: NC_000011.9:g.(?_111779488)_(111780026_?)del	deletion	germline	CARDIOMYOPATHY, DILATED, 1II; CMD1II; Dilated cardiomyopathy 1II; Familial isolated dilated cardiomyopathy	Pathogenic	ClinVar	RCV001958624.3, VCV001455522.3

No genotype data were submitted for this variant

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