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dbVar

Database of genomic structural variation

nsv5600261

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:254

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: 89 SVs from 24 studies. See in: genome view

Submitted genomic20,310,355-20,310,608

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5600261	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	20,310,355	20,310,608
nsv5600261	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	20,778,514	20,778,767

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17084964	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17084964	Submitted genomic		NC_000014.9:g.2031 0355_20310608delT	GRCh38 (hg38)		NC_000014.9	Chr14	20,310,355	20,310,608
nssv17084964	Remapped	Perfect	NC_000014.8:g.2077 8514_20778767delT	GRCh37.p13	First Pass	NC_000014.8	Chr14	20,778,514	20,778,767

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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