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dbVar

Database of genomic structural variation

nsv5576602

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:19,111

Publication(s):Ebert et al. 2021

Links to Other Resources

Overlapping Genes

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: 543 SVs from 66 studies. See in: genome view

Submitted genomic6,981,349-7,000,459

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576602	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	6,981,349	7,000,459
nsv5576602	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	6,838,871	6,857,981

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17150604	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17150604	Submitted genomic		NC_000008.11:g.698 1349_7000459delA	GRCh38 (hg38)		NC_000008.11	Chr8	6,981,349	7,000,459
nssv17150604	Remapped	Perfect	NC_000008.10:g.683 8871_6857981delA	GRCh37.p13	First Pass	NC_000008.10	Chr8	6,838,871	6,857,981

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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