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

dbVar

Database of genomic structural variation

nsv6796426

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:36

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: 92 SVs from 18 studies. See in: genome view

Submitted genomic34,308,135-34,308,170

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6796426	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	34,308,135	34,308,170
nsv6796426	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	34,275,912	34,275,947

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18527251	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
nssv18527251	Submitted genomic		NC_000006.12:g.343 08135_34308170del	GRCh38 (hg38)		NC_000006.12	Chr6	34,308,135	34,308,170
nssv18527251	Remapped	Perfect	NC_000006.11:g.342 75912_34275947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	34,275,912	34,275,947

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)
nssv18527251	0.314	48013	153484

You are here: NCBI