A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054623



Internal ID18797154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132973304..133201059hg38UCSC Ensembl
Innerchr12:133549890..133777645hg19UCSC Ensembl
Innerchr12:132059963..132287718hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38227756
hg19227756
hg18227756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1590n100
Supporting Variantsnssv3526386
Samples
Known GenesZNF10, ZNF140, ZNF26, ZNF268, ZNF84, ZNF891
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054623
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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