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dbVar

Database of genomic structural variation

nsv5599885

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:72

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: 149 SVs from 35 studies. See in: genome view

Submitted genomic50,340,852-50,340,923

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5599885	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	50,340,852	50,340,923
nsv5599885	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	50,633,049	50,633,120

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17081554	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17081554	Submitted genomic		NC_000015.10:g.503 40852_50340923delT	GRCh38 (hg38)		NC_000015.10	Chr15	50,340,852	50,340,923
nssv17081554	Remapped	Perfect	NC_000015.9:g.5063 3049_50633120delT	GRCh37.p13	First Pass	NC_000015.9	Chr15	50,633,049	50,633,120

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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