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dbVar

Database of genomic structural variation

nsv5602976

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:46,726

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: 393 SVs from 64 studies. See in: genome view

Submitted genomic55,190,250-55,236,975

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5602976	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	55,190,250	55,236,975
nsv5602976	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	56,950,010	56,996,735

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17070730	deletion	HG03371	Sequencing	Sequence alignment	2,852

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17070730	Submitted genomic		NC_000010.11:g.551 90250_55236975delG	GRCh38 (hg38)		NC_000010.11	Chr10	55,190,250	55,236,975
nssv17070730	Remapped	Perfect	NC_000010.10:g.569 50010_56996735delG	GRCh37.p13	First Pass	NC_000010.10	Chr10	56,950,010	56,996,735

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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