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dbVar

Database of genomic structural variation

nsv5595348

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:4,822

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: 351 SVs from 53 studies. See in: genome view

Submitted genomic69,827,834-69,832,655

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595348	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	69,827,834	69,832,655
nsv5595348	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	70,401,966	70,406,787

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17084456	deletion	HG02011	Sequencing	Sequence alignment	2,906

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17084456	Submitted genomic		NC_000013.11:g.698 27834_69832655delC	GRCh38 (hg38)		NC_000013.11	Chr13	69,827,834	69,832,655
nssv17084456	Remapped	Perfect	NC_000013.10:g.704 01966_70406787delC	GRCh37.p13	First Pass	NC_000013.10	Chr13	70,401,966	70,406,787

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.

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