A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055117



Internal ID18797648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111744441..111851296hg38UCSC Ensembl
Innerchr12:112182245..112289100hg19UCSC Ensembl
Innerchr12:110666628..110773483hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38106856
hg19106856
hg18106856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1556n100
Supporting Variantsnssv3524907, nssv3524908, nssv3524905, nssv3524906
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055117
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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