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dbVar

Database of genomic structural variation

nsv5590635

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:449

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: 180 SVs from 38 studies. See in: genome view

Submitted genomic80,482,350-80,482,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5590635	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	80,482,350	80,482,798
nsv5590635	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	82,242,106	82,242,554

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17071341	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
nssv17071341	Submitted genomic		NC_000010.11:g.804 82350_80482798delA	GRCh38 (hg38)		NC_000010.11	Chr10	80,482,350	80,482,798
nssv17071341	Remapped	Perfect	NC_000010.10:g.822 42106_82242554delA	GRCh37.p13	First Pass	NC_000010.10	Chr10	82,242,106	82,242,554

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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