A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514659



Internal ID15466293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495406..27502170hg38UCSC Ensembl
Innerchr12:27648339..27655103hg19UCSC Ensembl
Innerchr12:27539606..27546370hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386765
hg196765
hg186765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2789416, nssv2790513, nssv2793287, nssv2788913, nssv2797960, nssv2797342, nssv2790465, nssv2796120, nssv2790632, nssv2796972, nssv2790610, nssv2797071, nssv2795559, nssv2795002, nssv2792191, nssv2793976, nssv2792574, nssv2789275, nssv2788659, nssv2793626, nssv2791885, nssv2792431, nssv2797554, nssv2791112, nssv2795048, nssv2796613, nssv2789341, nssv2790872, nssv2791803, nssv2794189, nssv2798313, nssv2792248, nssv2790167, nssv2790121, nssv2794535, nssv2796359, nssv2797692, nssv2793685, nssv2798085, nssv2798057, nssv2793737, nssv2789485, nssv2793218, nssv2792160, nssv2791087, nssv2792721, nssv2797927, nssv2794669, nssv2789763, nssv2789820, nssv2797202, nssv2793303, nssv2797208, nssv2797308, nssv2788646, nssv2796748, nssv2795643, nssv2796131
SamplesNA12154, NA19152, NA21441, NA18933, NA18874, NA19173, NA21599, NA21307, NA18516, NA18517, NA19109, NA18855, NA19144, NA21454, NA19257, NA19108, NA21361, NA21489, NA19143, NA19161, NA18934, NA19239, NA21686, NA21493, NA12004, NA19199, NA21716, NA19197, NA21359, NA19256, NA18916, NA12777, NA21442, NA19122, NA19094, NA12877, NA18875, NA21455, NA19154, NA21648, NA10856, NA19141, NA19145, NA18857, NA19115, NA12889, NA19123, NA19225, NA18917, NA19224, NA19160, NA11829, NA19171, NA19240, NA19113, NA18935, NA19092, NA21494
Known GenesSMCO2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514659
Frequency
Sample Size2366
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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