A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560217



Internal ID16000940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111766623..111868361hg38UCSC Ensembl
Innerchr12:112204427..112306165hg19UCSC Ensembl
Innerchr12:110688810..110790548hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38101739
hg19101739
hg18101739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2874n54
Supporting Variantsnssv802330
Samples
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)nsv560217
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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