A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533217



Internal ID15162547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111761276..111868361hg38UCSC Ensembl
Innerchr12:112199080..112306165hg19UCSC Ensembl
Innerchr12:110683463..110790548hg18UCSC Ensembl
Innerchr12:110661800..110768885hg17UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38107086
hg19107086
hg18107086
hg17107086
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455715
Supporting Variants
SamplesHGDP00962
Known GenesALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv533217
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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