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

dbVar

Database of genomic structural variation

nsv6638539

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:2,229

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: 167 SVs from 33 studies. See in: genome view

Submitted genomic101,949,873-101,952,101

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6638539	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	101,949,873	101,952,101
nsv6638539	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	102,415,429	102,417,657

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18345986	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
nssv18345986	Submitted genomic		NC_000001.11:g.101 949873_101952101de l	GRCh38 (hg38)		NC_000001.11	Chr1	101,949,873	101,952,101
nssv18345986	Remapped	Perfect	NC_000001.10:g.102 415429_102417657de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	102,415,429	102,417,657

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)
nssv18345986	7e-06	2	274914

You are here: NCBI