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

dbVar

Database of genomic structural variation

nsv6808401

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:516,923

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: 1344 SVs from 71 studies. See in: genome view

Submitted genomic89,111,826-89,628,748

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6808401	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	89,111,826	89,628,748
nsv6808401	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	89,821,545	90,338,467

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18717161	duplication	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
nssv18717161	Submitted genomic		NC_000006.12:g.891 11826_89628748dup	GRCh38 (hg38)		NC_000006.12	Chr6	89,111,826	89,628,748
nssv18717161	Remapped	Perfect	NC_000006.11:g.898 21545_90338467dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	89,821,545	90,338,467

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)
nssv18717161	7e-06	2	275350

You are here: NCBI