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dbVar

Database of genomic structural variation

nsv5580934

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:50

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: 96 SVs from 20 studies. See in: genome view

Submitted genomic69,591,558-69,591,607

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5580934	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	69,591,558	69,591,607
nsv5580934	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	69,818,690	69,818,739

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17113601	deletion	HG03125	Sequencing	Sequence alignment	5,031

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17113601	Submitted genomic		NC_000002.12:g.695 91558_69591607delT	GRCh38 (hg38)		NC_000002.12	Chr2	69,591,558	69,591,607
nssv17113601	Remapped	Perfect	NC_000002.11:g.698 18690_69818739delT	GRCh37.p13	First Pass	NC_000002.11	Chr2	69,818,690	69,818,739

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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