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dbVar

Database of genomic structural variation

nsv5564843

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:10,071

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: 245 SVs from 43 studies. See in: genome view

Submitted genomic203,316,939-203,327,009

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5564843	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	203,316,939	203,327,009
nsv5564843	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	204,181,662	204,191,732

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17111163	deletion	SAMN00801888	Sequencing	Sequence alignment	2,004

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17111163	Submitted genomic		NC_000002.12:g.203 316939_203327009de lA	GRCh38 (hg38)		NC_000002.12	Chr2	203,316,939	203,327,009
nssv17111163	Remapped	Perfect	NC_000002.11:g.204 181662_204191732de lA	GRCh37.p13	First Pass	NC_000002.11	Chr2	204,181,662	204,191,732

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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