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dbVar

Database of genomic structural variation

nsv5591202

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:10,634

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: 320 SVs from 54 studies. See in: genome view

Submitted genomic41,055,306-41,065,939

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5591202	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	41,055,306	41,065,939
nsv5591202	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	39,211,558	39,222,191

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17084144	deletion	HG01505	Sequencing	Sequence alignment	1,109

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17084144	Submitted genomic		NC_000017.11:g.410 55306_41065939delC	GRCh38 (hg38)		NC_000017.11	Chr17	41,055,306	41,065,939
nssv17084144	Remapped	Perfect	NC_000017.10:g.392 11558_39222191delC	GRCh37.p13	First Pass	NC_000017.10	Chr17	39,211,558	39,222,191

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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