A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560214



Internal ID16000937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111743274..111877368hg38UCSC Ensembl
Innerchr12:112181078..112315172hg19UCSC Ensembl
Innerchr12:110665461..110799555hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38134095
hg19134095
hg18134095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2874n54
Supporting Variantsnssv802325
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560214
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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