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

dbVar

Database of genomic structural variation

nsv5432744

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:166,966

Publication(s):Byrska-Bishop et al. 2022

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: 1944 SVs from 91 studies. See in: genome view

Submitted genomic103,593,835-103,760,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5432744	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	103,593,835	103,760,800
nsv5432744	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	104,136,457	104,303,422

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16907631	copy number variation	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16907631	Submitted genomic		GRCh38 (hg38)		NC_000001.11	Chr1	103,593,835	103,760,800
nssv16907631	Remapped	Perfect	GRCh37.p13	First Pass	NC_000001.10	Chr1	104,136,457	104,303,422

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)
nssv16907631	0.5	839	1678

You are here: NCBI