A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054933



Internal ID18797464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132973304..133108538hg38UCSC Ensembl
Innerchr12:133549890..133685124hg19UCSC Ensembl
Innerchr12:132059963..132195197hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38135235
hg19135235
hg18135235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526385
Samples
Known GenesZNF140, ZNF26, ZNF84
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054933
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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