A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010298



Internal ID22071929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111743267..111876910hg38UCSC Ensembl
Outerchr12:111735404..111883947hg38UCSC Ensembl
Innerchr12:112181071..112314714hg19UCSC Ensembl
Outerchr12:112173208..112321751hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38148544
hg19148544
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154856
Supporting Variants
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010298
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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