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

dbVar

Database of genomic structural variation

nsv6936552

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:29,604

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: 169 SVs from 52 studies. See in: genome view

Submitted genomic47,191,880-47,221,483

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6936552	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	47,191,880	47,221,483
nsv6936552	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	47,585,663	47,615,266

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18361799	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
nssv18361799	Submitted genomic		NC_000012.12:g.471 91880_47221483del	GRCh38 (hg38)		NC_000012.12	Chr12	47,191,880	47,221,483
nssv18361799	Remapped	Perfect	NC_000012.11:g.475 85663_47615266del	GRCh37.p13	First Pass	NC_000012.11	Chr12	47,585,663	47,615,266

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)
nssv18361799	4e-06	1	276254

You are here: NCBI