A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560215



Internal ID16000938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111761276..111868361hg38UCSC Ensembl
Innerchr12:112199080..112306165hg19UCSC Ensembl
Innerchr12:110683463..110790548hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38107086
hg19107086
hg18107086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2874n54
Supporting Variantsnssv802326, nssv802328, nssv802327, nssv1175891
SamplesHGDP00962
Known GenesALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560215
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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