A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914293



Internal ID10279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62689331..62694500hg38UCSC Ensembl
chr2:62916466..62921635hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385170
hg195170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441237
Supporting Variants
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914293
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer