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

dbVar

Database of genomic structural variation

nsv6930256

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:2,300

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: 139 SVs from 31 studies. See in: genome view

Submitted genomic45,517,501-45,519,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6930256	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	45,517,501	45,519,800
nsv6930256	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	45,911,284	45,913,583

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18361532	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
nssv18361532	Submitted genomic		NC_000012.12:g.455 17501_45519800del	GRCh38 (hg38)		NC_000012.12	Chr12	45,517,501	45,519,800
nssv18361532	Remapped	Perfect	NC_000012.11:g.459 11284_45913583del	GRCh37.p13	First Pass	NC_000012.11	Chr12	45,911,284	45,913,583

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)
nssv18361532	4e-06	1	276162

You are here: NCBI