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

dbVar

Database of genomic structural variation

nsv5524076

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:105

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: 146 SVs from 51 studies. See in: genome view

Submitted genomic52,445,718-52,445,822

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5524076	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	52,445,718	52,445,822
nsv5524076	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,948,971	52,949,075

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17724175	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17724175	Submitted genomic		NC_000019.10:g.524 45718_52445822del	GRCh38 (hg38)		NC_000019.10	Chr19	52,445,718	52,445,822
nssv17724175	Remapped	Perfect	NC_000019.9:g.5294 8971_52949075del	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,948,971	52,949,075

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)
nssv17724175	0.843	5392	6398

You are here: NCBI