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dbVar

Database of genomic structural variation

nsv5596006

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:140

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: 118 SVs from 33 studies. See in: genome view

Submitted genomic27,221,193-27,221,332

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5596006	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	27,221,193	27,221,332
nsv5596006	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	27,617,154	27,617,293

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17136535	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17136535	Submitted genomic		NC_000022.11:g.272 21193_27221332delG	GRCh38 (hg38)		NC_000022.11	Chr22	27,221,193	27,221,332
nssv17136535	Remapped	Perfect	NC_000022.10:g.276 17154_27617293delG	GRCh37.p13	First Pass	NC_000022.10	Chr22	27,617,154	27,617,293

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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