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dbVar

Database of genomic structural variation

nsv5381502

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:96

Description:NC_000004.11:g.(?_120057671)_(120057766_?)dup AND Hypertrophic cardiomyopathy

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: 109 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):119,136,516-119,136,611

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381502	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	119,136,516	119,136,611
nsv5381502	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	120,057,671	120,057,766

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866672	duplication	Multiple	Multiple	Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy	Uncertain significance	ClinVar	RCV001316435.1, VCV001017305.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866672	Remapped	Perfect	NC_000004.12:g.(?_ 119136516)_(119136 611_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	119,136,516	119,136,611
nssv16866672	Submitted genomic		NC_000004.11:g.(?_ 120057671)_(120057 766_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	120,057,671	120,057,766

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
nssv16866672	GRCh37: NC_000004.11:g.(?_120057671)_(120057766_?)dup	duplication	germline	Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy	Uncertain significance	ClinVar	RCV001316435.1, VCV001017305.1

No genotype data were submitted for this variant

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