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dbVar

Database of genomic structural variation

nsv5568591

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:246

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: 140 SVs from 28 studies. See in: genome view

Submitted genomic121,225,794-121,226,039

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5568591	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	121,225,794	121,226,039
nsv5568591	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	121,983,370	121,983,615

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17108163	deletion	HG02818	Sequencing	Sequence alignment	3,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17108163	Submitted genomic		NC_000002.12:g.121 225794_121226039de lC	GRCh38 (hg38)		NC_000002.12	Chr2	121,225,794	121,226,039
nssv17108163	Remapped	Perfect	NC_000002.11:g.121 983370_121983615de lC	GRCh37.p13	First Pass	NC_000002.11	Chr2	121,983,370	121,983,615

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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