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dbVar

Database of genomic structural variation

nsv5580591

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:16,211

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: 558 SVs from 65 studies. See in: genome view

Submitted genomic179,200,620-179,216,830

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5580591	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	179,200,620	179,216,830
nsv5580591	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	180,065,347	180,081,557

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17110461	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17110461	Submitted genomic		NC_000002.12:g.179 200620_179216830de lT	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,620	179,216,830
nssv17110461	Remapped	Perfect	NC_000002.11:g.180 065347_180081557de lT	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,347	180,081,557

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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