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

dbVar

Database of genomic structural variation

nsv5948025

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:680

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: 179 SVs from 29 studies. See in: genome view

Submitted genomic43,578,965-43,579,644

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5948025	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	43,578,965	43,579,644
nsv5948025	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	43,974,845	43,975,524

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17397543	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17397543	Submitted genomic		NC_000022.11:g.435 78965_43579644del	GRCh38 (hg38)		NC_000022.11	Chr22	43,578,965	43,579,644
nssv17397543	Remapped	Perfect	NC_000022.10:g.439 74845_43975524del	GRCh37.p13	First Pass	NC_000022.10	Chr22	43,974,845	43,975,524

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