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dbVar

Database of genomic structural variation

nsv5591939

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:4,072

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: 308 SVs from 38 studies. See in: genome view

Submitted genomic46,595,874-46,599,945

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5591939	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	46,595,874	46,599,945
nsv5591939	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	46,991,771	46,995,842

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17134394	deletion	HG03732	Sequencing	Sequence alignment	1,582

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17134394	Submitted genomic		NC_000022.11:g.465 95874_46599945delT	GRCh38 (hg38)		NC_000022.11	Chr22	46,595,874	46,599,945
nssv17134394	Remapped	Perfect	NC_000022.10:g.469 91771_46995842delT	GRCh37.p13	First Pass	NC_000022.10	Chr22	46,991,771	46,995,842

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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