A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690781



Internal ID114447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123237294..123243559hg38UCSC Ensembl
chr12:123721841..123728106hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386266
hg196266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513525
Supporting Variants
Samples
Known GenesC12orf65
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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