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

dbVar

Database of genomic structural variation

nsv6760505

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:38

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: 87 SVs from 26 studies. See in: genome view

Submitted genomic37,853,613-37,853,650

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6760505	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	37,853,613	37,853,650
nsv6760505	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	37,853,715	37,853,752

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18512867	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18512867	Submitted genomic		NC_000005.10:g.378 53613_37853650del	GRCh38 (hg38)		NC_000005.10	Chr5	37,853,613	37,853,650
nssv18512867	Remapped	Perfect	NC_000005.9:g.3785 3715_37853752del	GRCh37.p13	First Pass	NC_000005.9	Chr5	37,853,715	37,853,752

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18512867	0.09	18350	203934

You are here: NCBI