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

dbVar

Database of genomic structural variation

nsv6732663

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:68,500

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

Submitted genomic46,919,801-46,988,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6732663	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	46,919,801	46,988,300
nsv6732663	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	46,921,818	46,990,317

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18499109	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
nssv18499109	Submitted genomic		NC_000004.12:g.469 19801_46988300del	GRCh38 (hg38)		NC_000004.12	Chr4	46,919,801	46,988,300
nssv18499109	Remapped	Perfect	NC_000004.11:g.469 21818_46990317del	GRCh37.p13	First Pass	NC_000004.11	Chr4	46,921,818	46,990,317

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)
nssv18499109	<0.001	89	251614

You are here: NCBI