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

dbVar

Database of genomic structural variation

nsv6967613

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:332

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: 158 SVs from 55 studies. See in: genome view

Submitted genomic59,420,687-59,421,018

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6967613	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	59,420,687	59,421,018
nsv6967613	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	59,712,886	59,713,217

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18395212	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
nssv18395212	Submitted genomic		NC_000015.10:g.594 20687_59421018del	GRCh38 (hg38)		NC_000015.10	Chr15	59,420,687	59,421,018
nssv18395212	Remapped	Perfect	NC_000015.9:g.5971 2886_59713217del	GRCh37.p13	First Pass	NC_000015.9	Chr15	59,712,886	59,713,217

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)
nssv18395212	0.989	258265	261052

You are here: NCBI