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

dbVar

Database of genomic structural variation

nsv5592689

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:12,964

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: 537 SVs from 60 studies. See in: genome view

Submitted genomic63,650,503-63,663,466

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5592689	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	63,650,503	63,663,466
nsv5592689	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	64,224,636	64,237,599

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17082383	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17082383	Submitted genomic		NC_000013.11:g.636 50503_63663466delT	GRCh38 (hg38)		NC_000013.11	Chr13	63,650,503	63,663,466
nssv17082383	Remapped	Perfect	NC_000013.10:g.642 24636_64237599delT	GRCh37.p13	First Pass	NC_000013.10	Chr13	64,224,636	64,237,599

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