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

dbVar

Database of genomic structural variation

nsv6928052

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:1,893

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: 82 SVs from 24 studies. See in: genome view

Submitted genomic49,606,044-49,607,936

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6928052	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	49,606,044	49,607,936
nsv6928052	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	49,999,827	50,001,719

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18361914	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
nssv18361914	Submitted genomic		NC_000012.12:g.496 06044_49607936del	GRCh38 (hg38)		NC_000012.12	Chr12	49,606,044	49,607,936
nssv18361914	Remapped	Perfect	NC_000012.11:g.499 99827_50001719del	GRCh37.p13	First Pass	NC_000012.11	Chr12	49,999,827	50,001,719

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)
nssv18361914	2.8e-05	8	275482

You are here: NCBI