A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045111



Internal ID18787642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27132161..27640822hg38UCSC Ensembl
Innerchr12:27285094..27793755hg19UCSC Ensembl
Innerchr12:27176361..27685022hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38508662
hg19508662
hg18508662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1406n100
Supporting Variantsnssv3710335
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045111
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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