A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053399



Internal ID18795930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111744441..111876531hg38UCSC Ensembl
Innerchr12:112182245..112314335hg19UCSC Ensembl
Innerchr12:110666628..110798718hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38132091
hg19132091
hg18132091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1556n100
Supporting Variantsnssv3712602, nssv3524927, nssv3712601, nssv3524926, nssv3524924, nssv3524925, nssv3524922, nssv3524923
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)nsv1053399
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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