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dbVar

Database of genomic structural variation

nsv5600589

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:63

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

Submitted genomic82,260,288-82,260,350

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5600589	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	82,260,288	82,260,350
nsv5600589	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	80,218,164	80,218,226

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17092466	deletion	SAMN00001229	Sequencing	Sequence alignment	1,149

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17092466	Submitted genomic		NC_000017.11:g.822 60288_82260350delC	GRCh38 (hg38)		NC_000017.11	Chr17	82,260,288	82,260,350
nssv17092466	Remapped	Perfect	NC_000017.10:g.802 18164_80218226delC	GRCh37.p13	First Pass	NC_000017.10	Chr17	80,218,164	80,218,226

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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