A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043172



Internal ID18785703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111744441..111876898hg38UCSC Ensembl
Innerchr12:112182245..112314702hg19UCSC Ensembl
Innerchr12:110666628..110799085hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38132458
hg19132458
hg18132458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1556n100
Supporting Variantsnssv3524929, nssv3524928
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)nsv1043172
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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