A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712603



Internal ID18664198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111755671..111872262hg38UCSC Ensembl
Innerchr12:112193475..112310066hg19UCSC Ensembl
Innerchr12:110677858..110794449hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38116592
hg19116592
hg18116592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053314
Supporting Variants
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)nssv3712603
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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