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

dbVar

Database of genomic structural variation

nsv5551448

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:259

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: 173 SVs from 27 studies. See in: genome view

Submitted genomic38,063,910-38,064,168

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5551448	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000021.9	Chr21	38,063,910	38,064,168

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17726815	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17726815	Submitted genomic	NC_000021.9:g.3806 3910_38064168del	GRCh38 (hg38)	NC_000021.9	Chr21	38,063,910	38,064,168

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)
nssv17726815	0.352	1955	5562

You are here: NCBI