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dbVar

Database of genomic structural variation

nsv7094930

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:801,865

Description:NC_000018.9:g.(?_2656075)_(3457938_?)del 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: 3136 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):2,656,076-3,457,940

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094930	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	2,656,076	3,457,940
nsv7094930	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	2,656,075	3,457,938

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788306	deletion	Multiple	Multiple	Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy	Uncertain significance	ClinVar	RCV003107746.2, VCV002424763.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788306	Remapped	Perfect	NC_000018.10:g.(?_ 2656076)_(3457940_ ?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	2,656,076	3,457,940
nssv18788306	Submitted genomic		NC_000018.9:g.(?_2 656075)_(3457938_? )del	GRCh37 (hg19)		NC_000018.9	Chr18	2,656,075	3,457,938

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
nssv18788306	GRCh37: NC_000018.9:g.(?_2656075)_(3457938_?)del	deletion	germline	Cardiomyopathy, Hypertrophic; Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy	Uncertain significance	ClinVar	RCV003107746.2, VCV002424763.2

No genotype data were submitted for this variant

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