A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731257



Internal ID154923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16657453..16666958hg38UCSC Ensembl
chr20:16638098..16647603hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg389506
hg199506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523922
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731257
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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