A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039513



Internal ID18782044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69530886..69598862hg38UCSC Ensembl
Innerchr12:69924666..69992642hg19UCSC Ensembl
Innerchr12:68210933..68278909hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3867977
hg1967977
hg1867977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1523n100
Supporting Variantsnssv3524606
Samples
Known GenesCCT2, FRS2, MIR3913-1, MIR3913-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039513
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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