A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514674



Internal ID15813033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:759914..764749hg38UCSC Ensembl
Innerchr12:869080..873915hg19UCSC Ensembl
Innerchr12:739341..744176hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384836
hg194836
hg184836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2795300, nssv2791716, nssv2798352, nssv2790203, nssv2792120, nssv2791627, nssv2798420, nssv2793904, nssv2788922, nssv2797408, nssv2797317, nssv2793631, nssv2789038, nssv2797813, nssv2797674, nssv2791884, nssv2797047, nssv2795555, nssv2792080, nssv2793065, nssv2794375, nssv2792875, nssv2791339, nssv2793284, nssv2791739, nssv2791926, nssv2789677, nssv2789496, nssv2789562, nssv2797247, nssv2790080, nssv2791402, nssv2797889, nssv2789084, nssv2796136, nssv2792745, nssv2796504, nssv2790546, nssv2796333, nssv2795058, nssv2790879, nssv2796538, nssv2794500, nssv2798218, nssv2789778, nssv2789760, nssv2792279, nssv2795578, nssv2788732
SamplesNA12717, NA12286, NA11995, NA10851, NA12843, NA12344, NA12045, NA21648, NA12146, NA12832, NA12400, NA12750, NA12155, NA18563, NA12336, NA12802, NA12348, NA11992, NA18611, NA12889, NA12815, NA10855, NA11993, NA18605, NA12343, NA10831, NA12877, NA12718, NA11894, NA12056, NA06989, NA12145, NA10852, NA12778, NA18945, NA18632, NA12716, NA21425, NA21390, NA10840, NA12708, NA12740, NA10860, NA12329, NA11892, NA12890, NA07034, NA10864, NA11832
Known GenesWNK1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514674
Frequency
Sample Size2366
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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