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

dbVar

Database of genomic structural variation

nsv6829204

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:8,020

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: 209 SVs from 28 studies. See in: genome view

Submitted genomic157,191,335-157,199,354

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6829204	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	157,191,335	157,199,354
nsv6829204	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	156,984,029	156,992,048

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18541947	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
nssv18541947	Submitted genomic		NC_000007.14:g.157 191335_157199354de l	GRCh38 (hg38)		NC_000007.14	Chr7	157,191,335	157,199,354
nssv18541947	Remapped	Perfect	NC_000007.13:g.156 984029_156992048de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	156,984,029	156,992,048

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)
nssv18541947	1.4e-05	4	276196

You are here: NCBI