A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526807



Internal ID302922
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 StatusM
Merged Variants
Supporting Variantsnssv17730709
Samples
Known GenesPLCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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