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

dbVar

Database of genomic structural variation

nsv6640696

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:4,600

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: 143 SVs from 34 studies. See in: genome view

Submitted genomic11,666,001-11,670,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6640696	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	11,666,001	11,670,600
nsv6640696	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	11,726,058	11,730,657

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18347191	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
nssv18347191	Submitted genomic		NC_000001.11:g.116 66001_11670600del	GRCh38 (hg38)		NC_000001.11	Chr1	11,666,001	11,670,600
nssv18347191	Remapped	Perfect	NC_000001.10:g.117 26058_11730657del	GRCh37.p13	First Pass	NC_000001.10	Chr1	11,726,058	11,730,657

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)
nssv18347191	3.9e-05	11	273340

You are here: NCBI