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

dbVar

Database of genomic structural variation

nsv6962523

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:1,526

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: 226 SVs from 56 studies. See in: genome view

Submitted genomic55,363,349-55,364,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6962523	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	55,363,349	55,364,874
nsv6962523	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	55,655,547	55,657,072

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18394124	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
nssv18394124	Submitted genomic		NC_000015.10:g.553 63349_55364874del	GRCh38 (hg38)		NC_000015.10	Chr15	55,363,349	55,364,874
nssv18394124	Remapped	Perfect	NC_000015.9:g.5565 5547_55657072del	GRCh37.p13	First Pass	NC_000015.9	Chr15	55,655,547	55,657,072

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)
nssv18394124	0.053	14681	274240

You are here: NCBI