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dbVar

Database of genomic structural variation

nsv5602561

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:78

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: 212 SVs from 31 studies. See in: genome view

Submitted genomic17,104,031-17,104,108

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5602561	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	17,104,031	17,104,108
nsv5602561	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	17,584,921	17,584,998

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17126068	deletion	HG03683	Sequencing	Sequence alignment	2,232

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17126068	Submitted genomic		NC_000022.11:g.171 04031_17104108delA	GRCh38 (hg38)		NC_000022.11	Chr22	17,104,031	17,104,108
nssv17126068	Remapped	Perfect	NC_000022.10:g.175 84921_17584998delA	GRCh37.p13	First Pass	NC_000022.10	Chr22	17,584,921	17,584,998

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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