Variant DetailsVariant: nsv514835 | Internal ID | 15466469 | | Landmark | | | Location Information | | | Cytoband | 17q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 5019 | | hg19 | 5019 | | hg18 | 5019 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv2828622, nssv2829664, nssv2828675, nssv2828823, nssv2828860, nssv2828595, nssv2828841, nssv2828668, nssv2827889, nssv2828643, nssv2828739, nssv2828713, nssv2828499, nssv2827888, nssv2828856, nssv2827863, nssv2828719, nssv2828712, nssv2827891, nssv2828523, nssv2828646, nssv2828524, nssv2829634, nssv2828540, nssv2828844, nssv2828747, nssv2828676, nssv2828711, nssv2827878, nssv2829604, nssv2828607, nssv2828658, nssv2828766, nssv2828554, nssv2829643, nssv2828648, nssv2828808, nssv2828611, nssv2827879, nssv2828705, nssv2828617, nssv2828625, nssv2829685, nssv2828727, nssv2828779, nssv2828684, nssv2828577, nssv2828798, nssv2829614, nssv2828802, nssv2829682, nssv2828806, nssv2828780, nssv2827866, nssv2828655, nssv2829676, nssv2829631, nssv2828862, nssv2829654, nssv2829626, nssv2828761, nssv2828500, nssv2828846, nssv2829605, nssv2828757, nssv2828735, nssv2827870, nssv2828584, nssv2828783, nssv2828537, nssv2828585, nssv2828509, nssv2829612, nssv2828538, nssv2828769, nssv2828618, nssv2829683, nssv2827861, nssv2828825, nssv2828688, nssv2829603, nssv2828562, nssv2828722, nssv2827868, nssv2828748, nssv2828581, nssv2829636, nssv2828795, nssv2828792, nssv2828810, nssv2828597, nssv2828662, nssv2829629, nssv2828498, nssv2829679, nssv2829624, nssv2828692, nssv2828701, nssv2829669, nssv2828553, nssv2828504, nssv2829652, nssv2829619, nssv2828533, nssv2828737, nssv2828751, nssv2828512, nssv2829621, nssv2828661, nssv2828569, nssv2827890, nssv2829668, nssv2828528, nssv2829663, nssv2829607, nssv2828796, nssv2829608, nssv2829671, nssv2828804, nssv2828742, nssv2829642, nssv2829658, nssv2828746, nssv2829640, nssv2827880, nssv2828626, nssv2828706, nssv2828686, nssv2829628, nssv2828697, nssv2828683, nssv2829630, nssv2828667, nssv2829677, nssv2828714, nssv2828653, nssv2828776, nssv2828721, nssv2828527, nssv2828614, nssv2828847, nssv2829647, nssv2828759, nssv2828794, nssv2828707, nssv2828677, nssv2828615, nssv2828568, nssv2828709, nssv2828598, nssv2828827, nssv2828851, nssv2828636, nssv2829667, nssv2828835, nssv2827865, nssv2828813, nssv2828816, nssv2828609, nssv2828580, nssv2828567, nssv2828764, nssv2829610, nssv2828635, nssv2829660, nssv2829602, nssv2828815, nssv2828691, nssv2828790, nssv2828753, nssv2829637, nssv2828573, nssv2828522, nssv2829639, nssv2828591, nssv2828829, nssv2829615, nssv2828531, nssv2828582, nssv2828771, nssv2827892, nssv2828830, nssv2828557, nssv2828659, nssv2827872, nssv2828678, nssv2827874, nssv2828664, nssv2829648, nssv2828587, nssv2828517, nssv2828744, nssv2828620, nssv2828502, nssv2829665, nssv2828773, nssv2828730, nssv2828716, nssv2828501, nssv2828819, nssv2828702, nssv2828800, nssv2828550, nssv2827881, nssv2829666, nssv2828768, nssv2829644, nssv2828594, nssv2828670, nssv2829681, nssv2828680, nssv2827876, nssv2829632, nssv2828839, nssv2828832, nssv2829675, nssv2828732, nssv2828637, nssv2828828, nssv2828833, nssv2827875, nssv2828698, nssv2828497, nssv2828601, nssv2828726, nssv2828644, nssv2828578, nssv2829659, nssv2828703, nssv2829673, nssv2828840, nssv2829635, nssv2828743, nssv2828715, nssv2827867, nssv2828671, nssv2828503, nssv2827864, nssv2829613, nssv2828717, nssv2829657, nssv2829684, nssv2829651, nssv2828807, nssv2828770, nssv2828657, nssv2828623, nssv2829611, nssv2828588, nssv2828853, nssv2828599, nssv2827869, nssv2828575, nssv2828520, nssv2827859, nssv2829650, nssv2828848, nssv2828787, nssv2828534, nssv2828855, nssv2828674, nssv2828546, nssv2828738, nssv2828563, nssv2829649, nssv2827884, nssv2828801, nssv2829617, nssv2828632, nssv2828566, nssv2828799, nssv2828752, nssv2828694, nssv2828784, nssv2828656, nssv2828788, nssv2828525, nssv2829633, nssv2828571, nssv2828850, nssv2828758, nssv2828786, nssv2828514, nssv2828679, nssv2828544, nssv2828724, nssv2828834, nssv2828805, nssv2828838, nssv2828555, nssv2828822, nssv2828685, nssv2828695, nssv2828775, nssv2829678, nssv2828640, nssv2828741, nssv2828579, nssv2828708, nssv2828641, nssv2828603, nssv2828513, nssv2828731, nssv2828633, nssv2828642, nssv2827877, nssv2828624, nssv2828760, nssv2828736, nssv2828652, nssv2828733, nssv2828605, nssv2828535, nssv2828589, nssv2828672, nssv2828673, nssv2828539, nssv2829672, nssv2828729, nssv2828859, nssv2828628, nssv2828687, nssv2828647, nssv2828638, nssv2828803, nssv2828559, nssv2828681, nssv2828629, nssv2828552, nssv2828547, nssv2828590, nssv2828797, nssv2828754, nssv2828826, nssv2828602, nssv2828693, nssv2828734, nssv2829627, nssv2828592, nssv2829616, nssv2829638, nssv2828660, nssv2828718, nssv2828650, nssv2829653, nssv2827883, nssv2828772, nssv2828728, nssv2828639, nssv2828634, nssv2828821, nssv2828789, nssv2828516, nssv2828521, nssv2828665, nssv2828536, nssv2829625, nssv2828583, nssv2828852, nssv2828669, nssv2828809, nssv2828777, nssv2828765, nssv2828767, nssv2827871, nssv2828519, nssv2829662, nssv2828785, nssv2828749, nssv2828596, nssv2828682, nssv2828532, nssv2827860, nssv2828696, nssv2828858, nssv2828606, nssv2828820, nssv2828574, nssv2828843, nssv2828666, nssv2829641, nssv2828725, nssv2828663, nssv2828496, nssv2828710, nssv2828649, nssv2828551, nssv2828548, nssv2828530, nssv2828793, nssv2828586, nssv2829686, nssv2828631, nssv2828854, nssv2828654, nssv2828837, nssv2828842, nssv2828814, nssv2828526, nssv2828812, nssv2827887, nssv2828690, nssv2828542, nssv2828689, nssv2828627, nssv2828619, nssv2828610, nssv2828564, nssv2828518, nssv2829618, nssv2827886, nssv2828700, nssv2828572, nssv2828560, nssv2828508, nssv2829655, nssv2828849, nssv2829656, nssv2828556, nssv2828600, nssv2828762, nssv2828621, nssv2828836, nssv2828515, nssv2828756, nssv2828723, nssv2828778, nssv2828651, nssv2828608, nssv2828811, nssv2828861, nssv2828818, nssv2828755, nssv2828781, nssv2828545, nssv2828495, nssv2827862, nssv2829609, nssv2828570, nssv2828616, nssv2829620, nssv2828549, nssv2828831, nssv2828630, nssv2828763, nssv2828565, nssv2829646, nssv2829661, nssv2828645, nssv2828857, nssv2828612, nssv2828817, nssv2828505, nssv2828774, nssv2828558, nssv2827873, nssv2828740, nssv2829622, nssv2828845, nssv2828543, nssv2828529, nssv2828745, nssv2829680, nssv2828613, nssv2829623, nssv2828791, nssv2828704, nssv2828782, nssv2828720, nssv2829645, nssv2828511, nssv2827882, nssv2828699, nssv2827885, nssv2828604, nssv2828593, nssv2828750, nssv2828824, nssv2828561, nssv2829674, nssv2828576, nssv2829670, nssv2829606, nssv2828541, nssv2828506, nssv2828863, nssv2828507, nssv2828510 | | Samples | NA21636, NA21317, NA21488, NA18621, NA18947, NA18524, NA12414, NA12843, NA11920, NA18999, NA12751, NA21489, NA12801, NA18504, NA12146, NA21475, NA21635, NA12832, NA18633, NA12750, NA12813, NA19127, NA19192, NA19171, NA10835, NA21359, NA18995, NA12336, NA19191, NA18558, NA18547, NA18960, NA18916, NA07048, NA21479, NA11918, NA18582, NA18949, NA18868, NA07014, NA19172, NA10850, NA21523, NA19239, NA21387, NA21400, NA18867, NA12777, NA21307, NA18605, NA12760, NA12489, NA19120, NA19175, NA12878, NA19184, NA12718, NA18572, NA18948, NA21438, NA18981, NA12234, NA18907, NA18537, NA12818, NA19177, NA19142, NA18875, NA12829, NA11893, NA19181, NA11840, NA18532, NA06989, NA12145, NA18523, NA19132, NA12778, NA10856, NA21309, NA18593, NA21316, NA21608, NA19256, NA18517, NA18863, NA18564, NA19140, NA12873, NA21718, NA21388, NA12763, NA12347, NA19182, NA19117, NA19223, NA18609, NA19102, NA18873, NA21384, NA19121, NA19129, NA18624, NA21487, NA18612, NA10837, NA18487, NA18577, NA11832, NA21403, NA18998, NA18497, NA19237, NA21686, NA21477, NA19186, NA18924, NA19249, NA11995, NA18592, NA12814, NA12767, NA18980, NA12236, NA21476, NA19122, NA18507, NA18603, NA12045, NA19092, NA12004, NA21717, NA12058, NA10857, NA19190, NA19098, NA12400, NA12341, NA18550, NA12812, NA18489, NA21526, NA18635, NA18860, NA19131, NA18942, NA19197, NA12287, NA18498, NA12761, NA12282, NA12005, NA21447, NA21382, NA21512, NA21525, NA21453, NA12889, NA12815, NA19159, NA21716, NA19189, NA21601, NA21362, NA19209, NA12828, NA18908, NA12375, NA18973, NA12748, NA19007, NA19247, NA12753, NA10863, NA12872, NA18859, NA18991, NA21439, NA18910, NA19097, NA19221, NA19118, NA19000, NA07031, NA18518, NA18499, NA12892, NA12239, NA18853, NA19225, NA06985, NA21583, NA19160, NA18576, NA18978, NA11882, NA19183, NA11881, NA19108, NA18952, NA12864, NA12775, NA07051, NA21615, NA19193, NA18869, NA21513, NA19143, NA19109, NA19248, NA21404, NA19173, NA18987, NA12749, NA12830, NA18506, NA21614, NA21486, NA18972, NA18552, NA21303, NA07056, NA19146, NA19148, NA21514, NA21440, NA10864, NA19153, NA12383, NA19258, NA12717, NA12842, NA21524, NA21423, NA12286, NA19204, NA18862, NA18861, NA18508, NA10851, NA12273, NA18855, NA18935, NA12344, NA21310, NA18925, NA12340, NA18959, NA21301, NA21360, NA21522, NA18510, NA12399, NA18969, NA19107, NA07346, NA18563, NA18940, NA18519, NA10846, NA12802, NA18923, NA07347, NA18571, NA21493, NA21381, NA21365, NA21391, NA19130, NA11930, NA12275, NA19199, NA19123, NA12156, NA12044, NA11994, NA19235, NA19207, NA19128, NA18966, NA18990, NA10839, NA21344, NA21313, NA12752, NA07022, NA19194, NA19161, NA18933, NA12485, NA18485, NA12877, NA18579, NA18871, NA19103, NA21366, NA19208, NA19202, NA18573, NA11919, NA19150, NA12386, NA19151, NA18930, NA12056, NA19154, NA18857, NA19099, NA18555, NA19252, NA12144, NA18570, NA12546, NA19012, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA19115, NA19149, NA19147, NA12272, NA21390, NA07348, NA21361, NA18501, NA18484, NA06994, NA07435, NA19178, NA10843, NA07349, NA19211, NA19093, NA18636, NA18509, NA12329, NA19185, NA12875, NA11843, NA19116, NA18872, NA21363, NA11892, NA18968, NA12890, NA12154, NA19214, NA18620, NA18997, NA19141, NA19222, NA11830, NA21383, NA11829, NA10845, NA21399, NA19145, NA18917, NA18486, NA18545, NA21648, NA21386, NA12248, NA18870, NA12155, NA07357, NA18967, NA19005, NA19201, NA21600, NA19119, NA19198, NA12891, NA12348, NA11992, NA21401, NA12283, NA19138, NA18964, NA06993, NA18611, NA11917, NA18970, NA07019, NA19180, NA18874, NA12274, NA06984, NA21454, NA19137, NA21478, NA10855, NA21634, NA21442, NA18975, NA19200, NA21494, NA11993, NA11831, NA10847, NA21599, NA21480, NA12335, NA19210, NA18934, NA10836, NA12343, NA10831, NA19152, NA18956, NA19205, NA19236, NA18516, NA18637, NA12376, NA18503, NA11839, NA10838, NA21485, NA19179, NA18566, NA21441, NA19114, NA11894, NA10830, NA18856, NA12249, NA19113, NA12827, NA12264, NA12817, NA19101, NA10852, NA19257, NA12766, NA19095, NA18945, NA21302, NA18608, NA19094, NA06995, NA19206, NA18542, NA12716, NA18909, NA18961, NA10859, NA19240, NA19174, NA21425, NA19100, NA19144, NA18992, NA10840, NA12874, NA07037, NA07055, NA18911, NA06986, NA18594, NA12708, NA12740, NA18971, NA21580, NA18994, NA10860, NA18500, NA21581, NA19096, NA18854, NA21455, NA21312, NA21389, NA21490, NA18852, NA19224, NA18488, NA18511, NA07000, NA18522, NA07034, NA18622, NA18562, NA12776, NA18965 | | Known Genes | NF1 | | Method | Oligo aCGH | | Analysis | ADM2 threshold = 5 | | Platform | Agilent Eichler Human CNP 180K v3.0 | | Comments | | | Reference | Campbell_et_al_2011 | | Pubmed ID | 21397061 | | Accession Number(s) | nsv514835
| | Frequency | | Sample Size | 2366 | | Observed Gain | 488 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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