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

dbVar

Database of genomic structural variation

nsv6828830

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:3,294

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: 127 SVs from 38 studies. See in: genome view

Submitted genomic66,675,199-66,678,492

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6828830	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	66,675,199	66,678,492
nsv6828830	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	66,140,186	66,143,479

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18543472	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
nssv18543472	Submitted genomic		NC_000007.14:g.666 75199_66678492del	GRCh38 (hg38)		NC_000007.14	Chr7	66,675,199	66,678,492
nssv18543472	Remapped	Perfect	NC_000007.13:g.661 40186_66143479del	GRCh37.p13	First Pass	NC_000007.13	Chr7	66,140,186	66,143,479

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)
nssv18543472	0.002	610	253884

You are here: NCBI