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

dbVar

Database of genomic structural variation

nsv6520160

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,400

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: 89 SVs from 17 studies. See in: genome view

Submitted genomic21,395,201-21,397,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6520160	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	21,395,201	21,397,600
nsv6520160	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	21,375,839	21,378,238

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18067093	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18067093	Submitted genomic		NC_000020.11:g.213 95201_21397600del	GRCh38 (hg38)		NC_000020.11	Chr20	21,395,201	21,397,600
nssv18067093	Remapped	Perfect	NC_000020.10:g.213 75839_21378238del	GRCh37.p13	First Pass	NC_000020.10	Chr20	21,375,839	21,378,238

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)
nssv18067093	0.058	2168	37592

You are here: NCBI