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

dbVar

Database of genomic structural variation

nsv6975381

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:9,100

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: 129 SVs from 34 studies. See in: genome view

Submitted genomic78,748,901-78,758,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6975381	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	78,748,901	78,758,000
nsv6975381	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	79,041,243	79,050,342

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18397394	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
nssv18397394	Submitted genomic		NC_000015.10:g.787 48901_78758000del	GRCh38 (hg38)		NC_000015.10	Chr15	78,748,901	78,758,000
nssv18397394	Remapped	Perfect	NC_000015.9:g.7904 1243_79050342del	GRCh37.p13	First Pass	NC_000015.9	Chr15	79,041,243	79,050,342

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)
nssv18397394	5e-05	13	253254

You are here: NCBI