Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6309820

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:97

Description:Single allele AND not provided

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: 392 SVs from 41 studies. See in: genome view

Submitted genomic679,946-680,042

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv6309820	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000016.10	Chr16	679,946	680,042
nsv6309820	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000016.9	Chr16	729,946	730,042

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974029	deletion	Multiple	Multiple	not provided	Benign	ClinVar	RCV002052344.2, VCV001526326.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17974029	Submitted genomic	NC_000016.10:g.679 946_680042del	GRCh38 (hg38)	NC_000016.10	Chr16	679,946	680,042
nssv17974029	Submitted genomic	NC_000016.9:g.7299 46_730042del	GRCh37 (hg19)	NC_000016.9	Chr16	729,946	730,042

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
nssv17974029	GRCh37: NC_000016.9:g.729946_730042del, GRCh38: NC_000016.10:g.679946_680042del	deletion	germline	not provided	Benign	ClinVar	RCV002052344.2, VCV001526326.2

No genotype data were submitted for this variant

You are here: NCBI