A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052607



Internal ID18795138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111759806..111872262hg38UCSC Ensembl
Innerchr12:112197610..112310066hg19UCSC Ensembl
Innerchr12:110681993..110794449hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38112457
hg19112457
hg18112457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1556n100
Supporting Variantsnssv3524934
Samples
Known GenesALDH2, 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)nsv1052607
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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