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

dbVar

Database of genomic structural variation

nsv5602160

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:64

Publication(s):Ebert et al. 2021

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: 129 SVs from 32 studies. See in: genome view

Submitted genomic29,559,001-29,559,064

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5602160	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	29,559,001	29,559,064
nsv5602160	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	30,133,138	30,133,201

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17089282	deletion	SAMN00801888	Sequencing	Sequence alignment	2,004

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17089282	Submitted genomic		NC_000013.11:g.295 59001_29559064delT	GRCh38 (hg38)		NC_000013.11	Chr13	29,559,001	29,559,064
nssv17089282	Remapped	Perfect	NC_000013.10:g.301 33138_30133201delT	GRCh37.p13	First Pass	NC_000013.10	Chr13	30,133,138	30,133,201

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