A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731367



Internal ID155033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18481404..18486402hg38UCSC Ensembl
chr20:18462048..18467046hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg384999
hg194999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528671
Supporting Variants
Samples
Known GenesPOLR3F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731367
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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