A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497215



Internal ID274262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120228771..120228837hg38UCSC Ensembl
chr12:120666574..120666640hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684882
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497215
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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