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

dbVar

Database of genomic structural variation

nsv7025368

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:272,400

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: 2691 SVs from 111 studies. See in: genome view

Submitted genomic25,267,101-25,539,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7025368	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	25,267,101	25,539,500
nsv7025368	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	25,663,068	25,935,467

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18439040	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
nssv18439040	Submitted genomic		NC_000022.11:g.252 67101_25539500del	GRCh38 (hg38)		NC_000022.11	Chr22	25,267,101	25,539,500
nssv18439040	Remapped	Perfect	NC_000022.10:g.256 63068_25935467del	GRCh37.p13	First Pass	NC_000022.10	Chr22	25,663,068	25,935,467

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)
nssv18439040	0.009	2207	251426

You are here: NCBI