A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514836



Internal ID15466470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36089065..36168713hg38UCSC Ensembl
Innerchr17:34416411..34496071hg19UCSC Ensembl
Innerchr17:31440524..31520184hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3879649
hg1979661
hg1879661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2829904, nssv2829769, nssv2829752, nssv2829874, nssv2829836, nssv2829742, nssv2829746, nssv2829912, nssv2829710, nssv2829786, nssv2829738, nssv2829824, nssv2829690, nssv2829760, nssv2829789, nssv2829771, nssv2829879, nssv2829855, nssv2829712, nssv2829787, nssv2829839, nssv2829897, nssv2829816, nssv2829858, nssv2829902, nssv2829910, nssv2829828, nssv2829758, nssv2829717, nssv2829854, nssv2829909, nssv2829740, nssv2829729, nssv2829731, nssv2829831, nssv2829860, nssv2829726, nssv2829827, nssv2829842, nssv2829700, nssv2829765, nssv2829864, nssv2829826, nssv2829799, nssv2829748, nssv2829917, nssv2829841, nssv2829832, nssv2829901, nssv2829781, nssv2829795, nssv2829878, nssv2829770, nssv2829898, nssv2829801, nssv2829821, nssv2829721, nssv2829687, nssv2829851, nssv2829918, nssv2829759, nssv2829844, nssv2829811, nssv2829709, nssv2829782, nssv2829888, nssv2829873, nssv2829689, nssv2829783, nssv2829747, nssv2829803, nssv2829772, nssv2829892, nssv2829723, nssv2829845, nssv2829891, nssv2829857, nssv2829861, nssv2829749, nssv2829688, nssv2829818, nssv2829837, nssv2829907, nssv2829911, nssv2829883, nssv2829794, nssv2829890, nssv2829750, nssv2829815, nssv2829784, nssv2829736, nssv2829808, nssv2829893, nssv2829882, nssv2829819, nssv2829833, nssv2829775, nssv2829779, nssv2829867, nssv2829875, nssv2829708, nssv2829764, nssv2829757, nssv2829768, nssv2829761, nssv2829698, nssv2829716, nssv2829843, nssv2829743, nssv2829846, nssv2829915, nssv2829694, nssv2829767, nssv2829812, nssv2829838, nssv2829852, nssv2829715, nssv2829756, nssv2829834, nssv2829919, nssv2829713, nssv2829791, nssv2829877, nssv2829870, nssv2829862, nssv2829885, nssv2829735, nssv2829900, nssv2829777, nssv2829884, nssv2829724, nssv2829868, nssv2829753, nssv2829691, nssv2829722, nssv2829773, nssv2829813, nssv2829737, nssv2829856, nssv2829866, nssv2829814, nssv2829822, nssv2829920, nssv2829703, nssv2829820, nssv2829809, nssv2829876, nssv2829730, nssv2829807, nssv2829725, nssv2829778, nssv2829906, nssv2829810, nssv2829823, nssv2829805, nssv2829872, nssv2829825, nssv2829853, nssv2829727, nssv2829829, nssv2829790, nssv2829847, nssv2829718, nssv2829693, nssv2829886, nssv2829732, nssv2829869, nssv2829793, nssv2829895, nssv2829762, nssv2829739, nssv2829702, nssv2829806, nssv2829835, nssv2829734, nssv2829905, nssv2829802, nssv2829704, nssv2829889, nssv2829894, nssv2829850, nssv2829916, nssv2829741, nssv2829797, nssv2829763, nssv2829908, nssv2829914, nssv2829745, nssv2829692, nssv2829899, nssv2829751, nssv2829848, nssv2829707, nssv2829728, nssv2829699, nssv2829863, nssv2829887, nssv2829798, nssv2829871, nssv2829903, nssv2829697, nssv2829840, nssv2829881, nssv2829896, nssv2829800, nssv2829714, nssv2829744, nssv2829921, nssv2829788, nssv2829733, nssv2829913, nssv2829695, nssv2829776, nssv2829817, nssv2829830, nssv2829880, nssv2829705, nssv2829780, nssv2829849, nssv2829706, nssv2829720, nssv2829754, nssv2829804, nssv2829719, nssv2829755, nssv2829859, nssv2829785, nssv2829865, nssv2829701, nssv2829774, nssv2829792, nssv2829796, nssv2829711, nssv2829766, nssv2829696
SamplesNA07435, NA18503, NA19142, NA12767, NA19137, NA19146, NA21634, NA12827, NA19207, NA18870, NA18964, NA19248, NA12718, NA18863, NA19152, NA19194, NA18861, NA21438, NA19214, NA21441, NA18509, NA21390, NA07037, NA18594, NA19192, NA21524, NA18871, NA12286, NA21317, NA21580, NA07349, NA12801, NA18523, NA19114, NA18874, NA19174, NA12752, NA19209, NA18501, NA19120, NA18500, NA19149, NA19003, NA19191, NA18511, NA18859, NA06989, NA12815, NA18603, NA21487, NA21718, NA12813, NA06993, NA18972, NA18517, NA19109, NA18608, NA21403, NA18542, NA19184, NA18489, NA21386, NA19144, NA19210, NA07348, NA18507, NA18860, NA21425, NA18994, NA19257, NA21312, NA21361, NA21310, NA19236, NA12341, NA12044, NA19151, NA19208, NA18506, NA18862, NA19147, NA18632, NA19117, NA19140, NA21309, NA18934, NA18508, NA19148, NA19239, NA21686, NA12753, NA21493, NA12004, NA18854, NA19199, NA12383, NA18566, NA21615, NA21716, NA18960, NA19197, NA07357, NA19107, NA18990, NA21301, NA18991, NA18636, NA12740, NA19096, NA21363, NA12273, NA21359, NA12761, NA18956, NA21513, NA10852, NA21453, NA18497, NA18547, NA11843, NA19182, NA18485, NA11995, NA21608, NA19100, NA21399, NA18970, NA12751, NA19247, NA12708, NA07346, NA19129, NA19172, NA19189, NA19094, NA19103, NA21316, NA12778, NA19206, NA21717, NA12877, NA18923, NA18968, NA19102, NA21514, NA18875, NA18510, NA19119, NA18558, NA19098, NA21382, NA21648, NA18504, NA21303, NA21485, NA18978, NA21381, NA11892, NA18487, NA19237, NA18925, NA18997, NA12283, NA18562, NA19131, NA19159, NA19141, NA21313, NA18940, NA21401, NA19235, NA19258, NA21486, NA18987, NA18582, NA18999, NA19138, NA21635, NA18907, NA19101, NA19201, NA21439, NA12749, NA18995, NA21344, NA06984, NA18867, NA19193, NA12375, NA18872, NA19128, NA19115, NA06995, NA12889, NA19116, NA21360, NA19123, NA18971, NA19097, NA19132, NA19099, NA07022, NA21362, NA11830, NA21366, NA18852, NA19160, NA21583, NA18499, NA18924, NA19179, NA19095, NA10840, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19113, NA18935, NA21614, NA18908, NA19177, NA19249, NA21391, NA19092, NA21302, NA19202, NA19121, NA18980, NA21636, NA21494, NA21526
Known GenesCCL3, CCL4, TBC1D3B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514836
Frequency
Sample Size2366
Observed Gain235
Observed Loss0
Observed Complex0
Frequencyn/a


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