A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528671



Internal ID304718
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 StatusM
Merged Variants
Supporting Variantsnssv17731367
Samples
Known GenesPOLR3F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528671
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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