A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501844



Internal ID278734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111742954..111877971hg38UCSC Ensembl
chr12:112180758..112315775hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38135018
hg19135018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684510
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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