A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514680



Internal ID15466314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90094268..90098036hg38UCSC Ensembl
Innerchr12:90488045..90491813hg19UCSC Ensembl
Innerchr12:89012176..89015944hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383769
hg193769
hg183769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2798061, nssv2797917, nssv2797625, nssv2795242, nssv2790393, nssv2794861, nssv2793731, nssv2796548, nssv2793659, nssv2790642, nssv2789436, nssv2795512, nssv2792769, nssv2794152, nssv2792522, nssv2797552, nssv2793628, nssv2791662, nssv2794788, nssv2794446, nssv2795128, nssv2791361, nssv2789191, nssv2788694, nssv2794526, nssv2797934, nssv2795812, nssv2792489, nssv2795978, nssv2790816, nssv2788767, nssv2797156, nssv2790359, nssv2798012, nssv2792843, nssv2790093, nssv2788626, nssv2792524, nssv2792278, nssv2789230, nssv2796366, nssv2794233, nssv2797718, nssv2797002, nssv2795826, nssv2791245, nssv2797646, nssv2793283, nssv2788663, nssv2791570, nssv2791471, nssv2796339, nssv2794633, nssv2790724, nssv2793616, nssv2792371, nssv2791232, nssv2797706, nssv2792484, nssv2798249, nssv2797466, nssv2793753, nssv2790353, nssv2789270, nssv2798474, nssv2791279, nssv2789486, nssv2794501, nssv2790137, nssv2797282, nssv2793596, nssv2795082, nssv2792896, nssv2791347, nssv2793919, nssv2791238, nssv2797772, nssv2798251, nssv2792285, nssv2798088, nssv2793989, nssv2795828, nssv2797185, nssv2792838, nssv2794276, nssv2788824, nssv2795963, nssv2792925, nssv2796004, nssv2795923, nssv2792699, nssv2794312, nssv2794455, nssv2792418, nssv2792099, nssv2789409, nssv2791237, nssv2792316, nssv2798149, nssv2794551, nssv2792645, nssv2796611, nssv2792312, nssv2790562, nssv2797210, nssv2791733, nssv2793900, nssv2791378, nssv2796925, nssv2791170, nssv2791007, nssv2795136, nssv2788965, nssv2795192, nssv2796745, nssv2796297, nssv2793747, nssv2794795, nssv2790265, nssv2792805, nssv2788811, nssv2795611, nssv2789161, nssv2790485, nssv2790404, nssv2792861, nssv2794875, nssv2791429, nssv2790981, nssv2790697, nssv2789061, nssv2797090, nssv2796418, nssv2792575, nssv2795869, nssv2795630, nssv2788616, nssv2798141, nssv2797168, nssv2790381, nssv2797044, nssv2797810, nssv2790305, nssv2788577, nssv2797566, nssv2793170, nssv2792749, nssv2795697, nssv2794405, nssv2792547, nssv2794644, nssv2793089, nssv2796994, nssv2798078, nssv2791348, nssv2790880, nssv2788535, nssv2797444, nssv2789367, nssv2788749, nssv2796133, nssv2796719, nssv2789393, nssv2793238, nssv2792680, nssv2798407, nssv2792505, nssv2792921, nssv2797177, nssv2796456, nssv2791698, nssv2798195, nssv2798282, nssv2797582, nssv2796467, nssv2789009, nssv2795750, nssv2795135, nssv2789381, nssv2793275, nssv2791857, nssv2794991, nssv2793342, nssv2795003, nssv2797710, nssv2789053, nssv2795208, nssv2789292, nssv2794661, nssv2797984, nssv2797107, nssv2790772, nssv2791635, nssv2797656, nssv2792449, nssv2791876, nssv2795949, nssv2795662, nssv2788775, nssv2796148, nssv2789121, nssv2792927, nssv2796483, nssv2795849, nssv2797117, nssv2796220, nssv2793545, nssv2791078, nssv2794584, nssv2795070, nssv2792154, nssv2790860, nssv2791740, nssv2790833, nssv2788545, nssv2798062, nssv2792219, nssv2789994, nssv2790022, nssv2792283, nssv2789505, nssv2798025, nssv2789558, nssv2790795, nssv2789019, nssv2790420, nssv2790294, nssv2790270, nssv2793380, nssv2794310, nssv2793952, nssv2793042, nssv2791810, nssv2794254, nssv2788730, nssv2788955, nssv2797803, nssv2789314, nssv2794794, nssv2792673, nssv2794656, nssv2797888, nssv2793551, nssv2789710
SamplesNA12383, NA21636, NA18621, NA18947, NA19204, NA18524, NA12414, NA12843, NA11920, NA18999, NA12751, NA18925, NA12801, NA18504, NA12340, NA21301, NA21635, NA18510, NA12750, NA18969, NA12813, NA07346, NA18563, NA18940, NA21359, NA18995, NA12336, NA19191, NA12802, NA18558, NA18547, NA18960, NA11918, NA18582, NA18571, NA21493, NA21381, NA18949, NA11930, NA12275, NA19199, NA12156, NA11994, NA19172, NA10850, NA18966, NA18990, NA19239, NA10839, NA21387, NA21400, NA21344, NA12777, NA18605, NA12760, NA12489, NA12752, NA07022, NA12878, NA12485, NA12877, NA18579, NA12718, NA18871, NA18572, NA18948, NA21366, NA18981, NA12234, NA18537, NA18573, NA12818, NA11919, NA12386, NA12829, NA18532, NA06989, NA12145, NA19099, NA18555, NA19252, NA18523, NA12778, NA10856, NA18570, NA21309, NA12546, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA18564, NA12272, NA21718, NA21390, NA07348, NA21361, NA19182, NA19117, NA06994, NA07435, NA10843, NA19211, NA18636, NA18609, NA12875, NA11843, NA19116, NA21384, NA21363, NA18968, NA12890, NA21487, NA18612, NA10837, NA18577, NA11832, NA18620, NA18997, NA18998, NA11830, NA21477, NA21383, NA18924, NA11995, NA11829, NA10845, NA18592, NA12814, NA18980, NA12236, NA21476, NA18507, NA21399, NA18603, NA12045, NA18545, NA12004, NA21717, NA12248, NA12058, NA10857, NA18870, NA12400, NA12155, NA12341, NA18967, NA19005, NA18550, NA12812, NA21600, NA18635, NA18860, NA12891, NA18942, NA11992, NA21401, NA19197, NA12283, NA12287, NA18964, NA18611, NA12761, NA11917, NA18970, NA21382, NA07019, NA21454, NA12815, NA21716, NA19189, NA10855, NA21601, NA19209, NA12828, NA21634, NA18975, NA18908, NA12375, NA18973, NA21494, NA19007, NA21599, NA12335, NA10836, NA12343, NA12872, NA18956, NA18991, NA18910, NA10838, NA21485, NA18566, NA19000, NA07031, NA12264, NA12817, NA10852, NA06985, NA18945, NA18576, NA21302, NA18608, NA18978, NA06995, NA19183, NA18542, NA12716, NA11881, NA18961, NA12864, NA10859, NA19174, NA21425, NA19100, NA18992, NA10840, NA12874, NA07037, NA21513, NA06986, NA18594, NA12708, NA18971, NA21580, NA19173, NA18987, NA12749, NA18994, NA12830, NA21486, NA18972, NA18552, NA21389, NA21303, NA07056, NA07000, NA07034, NA18622, NA19153, NA18562, NA18965
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514680
Frequency
Sample Size2366
Observed Gain0
Observed Loss244
Observed Complex0
Frequencyn/a


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