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

dbVar

Database of genomic structural variation

nsv5929948

Organism: Homo sapiens

Study:nstd209 (Almarri 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:221

Publication(s):Almarri et al. 2020

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: 158 SVs from 31 studies. See in: genome view

Submitted genomic72,640,478-72,640,698

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5929948	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	72,640,478	72,640,698
nsv5929948	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	73,034,258	73,034,478

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17366605	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17366605	Submitted genomic		NC_000012.12:g.726 40478_72640698del	GRCh38 (hg38)		NC_000012.12	Chr12	72,640,478	72,640,698
nssv17366605	Remapped	Perfect	NC_000012.11:g.730 34258_73034478del	GRCh37.p13	First Pass	NC_000012.11	Chr12	73,034,258	73,034,478

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI