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

dbVar

Database of genomic structural variation

nsv6837104

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:3,255

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: 125 SVs from 41 studies. See in: genome view

Submitted genomic125,253,378-125,256,632

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6837104	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	125,253,378	125,256,632
nsv6837104	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	124,893,432	124,896,686

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18536115	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
nssv18536115	Submitted genomic		NC_000007.14:g.125 253378_125256632de l	GRCh38 (hg38)		NC_000007.14	Chr7	125,253,378	125,256,632
nssv18536115	Remapped	Perfect	NC_000007.13:g.124 893432_124896686de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	124,893,432	124,896,686

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)
nssv18536115	0.001	336	274848

You are here: NCBI