Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5571208

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:48,919

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: 291 SVs from 51 studies. See in: genome view

Submitted genomic108,601,659-108,650,577

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5571208	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	108,601,659	108,650,577
nsv5571208	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	109,218,115	109,267,033

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17107500	deletion	HG03732	Sequencing	Sequence alignment	1,582

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17107500	Submitted genomic		NC_000002.12:g.108 601659_108650577de lT	GRCh38 (hg38)		NC_000002.12	Chr2	108,601,659	108,650,577
nssv17107500	Remapped	Perfect	NC_000002.11:g.109 218115_109267033de lT	GRCh37.p13	First Pass	NC_000002.11	Chr2	109,218,115	109,267,033

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.

You are here: NCBI