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dbVar

Database of genomic structural variation

nsv5603034

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:80

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: 103 SVs from 29 studies. See in: genome view

Submitted genomic21,027,255-21,027,334

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5603034	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	21,027,255	21,027,334
nsv5603034	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	20,930,568	20,930,647

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17085695	deletion	HG02492	Sequencing	Sequence alignment	982

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17085695	Submitted genomic		NC_000017.11:g.210 27255_21027334delT	GRCh38 (hg38)		NC_000017.11	Chr17	21,027,255	21,027,334
nssv17085695	Remapped	Perfect	NC_000017.10:g.209 30568_20930647delT	GRCh37.p13	First Pass	NC_000017.10	Chr17	20,930,568	20,930,647

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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