A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730709



Internal ID154375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8114217..8599335hg38UCSC Ensembl
chr20:8094864..8579982hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38485119
hg19485119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526807
Supporting Variants
Samples
Known GenesPLCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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