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

dbVar

Database of genomic structural variation

nsv5519231

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:909

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: 93 SVs from 21 studies. See in: genome view

Submitted genomic2,121,811-2,122,719

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5519231	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	2,121,811	2,122,719
nsv5519231	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	2,102,457	2,103,365

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17730301	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17730301	Submitted genomic		NC_000020.11:g.212 1811_2122719del	GRCh38 (hg38)		NC_000020.11	Chr20	2,121,811	2,122,719
nssv17730301	Remapped	Perfect	NC_000020.10:g.210 2457_2103365del	GRCh37.p13	First Pass	NC_000020.10	Chr20	2,102,457	2,103,365

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)
nssv17730301	<0.001	1	6404

You are here: NCBI