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

dbVar

Database of genomic structural variation

nsv7007149

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:4,968

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

Submitted genomic31,598,643-31,603,610

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7007149	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	31,598,643	31,603,610
nsv7007149	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	29,178,606	29,183,573

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18416153	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
nssv18416153	Submitted genomic		NC_000018.10:g.315 98643_31603610del	GRCh38 (hg38)		NC_000018.10	Chr18	31,598,643	31,603,610
nssv18416153	Remapped	Perfect	NC_000018.9:g.2917 8606_29183573del	GRCh37.p13	First Pass	NC_000018.9	Chr18	29,178,606	29,183,573

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)
nssv18416153	4e-06	1	276234

You are here: NCBI