A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731340



Internal ID155006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18053637..18054689hg38UCSC Ensembl
chr20:18034281..18035333hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515160
Supporting Variants
Samples
Known GenesOVOL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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