A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514835



Internal ID15466469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31257390..31262408hg38UCSC Ensembl
Innerchr17:29584408..29589426hg19UCSC Ensembl
Innerchr17:26608534..26613552hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385019
hg195019
hg185019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2827873, nssv2828613, nssv2828608, nssv2827875, nssv2828630, nssv2828616, nssv2829608, nssv2827870, nssv2828665, nssv2829612, nssv2828647, nssv2828581, nssv2828678, nssv2828566, nssv2828614, nssv2829603, nssv2828700, nssv2828817, nssv2828858, nssv2828595, nssv2828502, nssv2828606, nssv2828537, nssv2828763, nssv2828570, nssv2828726, nssv2827883, nssv2827888, nssv2828516, nssv2828583, nssv2828561, nssv2828538, nssv2828656, nssv2828660, nssv2829657, nssv2828803, nssv2828821, nssv2829658, nssv2828754, nssv2828777, nssv2829663, nssv2828814, nssv2829602, nssv2828635, nssv2828861, nssv2827889, nssv2828504, nssv2828545, nssv2828556, nssv2828632, nssv2828522, nssv2828734, nssv2828746, nssv2828798, nssv2828643, nssv2828603, nssv2828815, nssv2829640, nssv2829680, nssv2828770, nssv2828758, nssv2828752, nssv2828588, nssv2828781, nssv2829652, nssv2827865, nssv2828833, nssv2828544, nssv2828640, nssv2828654, nssv2828736, nssv2829615, nssv2828653, nssv2829629, nssv2828532, nssv2828549, nssv2828829, nssv2828552, nssv2827860, nssv2828649, nssv2828786, nssv2828680, nssv2828698, nssv2828495, nssv2828622, nssv2828703, nssv2828828, nssv2828785, nssv2828497, nssv2828856, nssv2829686, nssv2828531, nssv2828569, nssv2828585, nssv2829618, nssv2827880, nssv2828742, nssv2829673, nssv2827868, nssv2828565, nssv2828727, nssv2828564, nssv2828591, nssv2828852, nssv2829637, nssv2829626, nssv2828527, nssv2828620, nssv2828844, nssv2828682, nssv2828523, nssv2828609, nssv2828592, nssv2828641, nssv2829619, nssv2829676, nssv2828539, nssv2828848, nssv2828788, nssv2828587, nssv2828797, nssv2828809, nssv2829650, nssv2828728, nssv2829675, nssv2828605, nssv2829672, nssv2828744, nssv2828575, nssv2828757, nssv2828807, nssv2828712, nssv2828824, nssv2829655, nssv2828520, nssv2827866, nssv2828508, nssv2828509, nssv2828863, nssv2828667, nssv2828571, nssv2829635, nssv2829628, nssv2828708, nssv2828706, nssv2828664, nssv2828573, nssv2829614, nssv2828766, nssv2828589, nssv2827890, nssv2828505, nssv2828648, nssv2828525, nssv2829642, nssv2827862, nssv2828646, nssv2828716, nssv2828834, nssv2828750, nssv2828515, nssv2828676, nssv2828694, nssv2828715, nssv2828741, nssv2828560, nssv2828602, nssv2828704, nssv2828517, nssv2828518, nssv2828851, nssv2828714, nssv2829630, nssv2828810, nssv2829606, nssv2828657, nssv2828710, nssv2828724, nssv2829647, nssv2827884, nssv2827872, nssv2828843, nssv2827859, nssv2828838, nssv2828514, nssv2828793, nssv2828787, nssv2828850, nssv2829648, nssv2828739, nssv2828775, nssv2828562, nssv2828599, nssv2828717, nssv2828759, nssv2828771, nssv2829659, nssv2829683, nssv2828666, nssv2828732, nssv2829610, nssv2828590, nssv2828624, nssv2828639, nssv2828805, nssv2828822, nssv2828840, nssv2828751, nssv2829651, nssv2829641, nssv2828547, nssv2828769, nssv2828753, nssv2829674, nssv2829684, nssv2827892, nssv2828719, nssv2828839, nssv2828511, nssv2828713, nssv2829611, nssv2828677, nssv2827882, nssv2829681, nssv2828748, nssv2828506, nssv2828628, nssv2828783, nssv2828808, nssv2828846, nssv2828615, nssv2828611, nssv2828621, nssv2828823, nssv2827869, nssv2828553, nssv2828695, nssv2828626, nssv2828510, nssv2828767, nssv2829666, nssv2827861, nssv2828693, nssv2828780, nssv2828548, nssv2828629, nssv2828849, nssv2828768, nssv2828512, nssv2828598, nssv2828619, nssv2827863, nssv2828563, nssv2828584, nssv2828672, nssv2828718, nssv2828774, nssv2828513, nssv2829632, nssv2828576, nssv2828738, nssv2828782, nssv2828543, nssv2828688, nssv2828707, nssv2828762, nssv2827878, nssv2828842, nssv2828661, nssv2829661, nssv2828610, nssv2828764, nssv2828558, nssv2828542, nssv2828813, nssv2828498, nssv2829639, nssv2828747, nssv2828773, nssv2828801, nssv2828638, nssv2827891, nssv2828756, nssv2829607, nssv2828729, nssv2828557, nssv2829660, nssv2829667, nssv2828580, nssv2828623, nssv2828501, nssv2828533, nssv2828701, nssv2828791, nssv2828779, nssv2828795, nssv2828836, nssv2828594, nssv2828835, nssv2828600, nssv2828644, nssv2828536, nssv2828790, nssv2828740, nssv2828804, nssv2828535, nssv2828761, nssv2828847, nssv2828853, nssv2828669, nssv2828709, nssv2828631, nssv2828637, nssv2828837, nssv2828857, nssv2827864, nssv2828568, nssv2828685, nssv2829669, nssv2828658, nssv2828733, nssv2828818, nssv2828534, nssv2828612, nssv2828526, nssv2828499, nssv2828555, nssv2828651, nssv2828546, nssv2827874, nssv2828593, nssv2829644, nssv2828636, nssv2828503, nssv2828855, nssv2829616, nssv2828604, nssv2828567, nssv2828530, nssv2829609, nssv2828755, nssv2828673, nssv2829678, nssv2828645, nssv2828731, nssv2828723, nssv2828554, nssv2828662, nssv2828618, nssv2828691, nssv2829685, nssv2828721, nssv2828730, nssv2827881, nssv2828792, nssv2828799, nssv2828816, nssv2828819, nssv2829671, nssv2828521, nssv2827887, nssv2828652, nssv2828845, nssv2829670, nssv2828559, nssv2828617, nssv2828671, nssv2828760, nssv2828540, nssv2829613, nssv2829654, nssv2828627, nssv2829668, nssv2828551, nssv2828832, nssv2828607, nssv2828854, nssv2828737, nssv2829645, nssv2828601, nssv2829623, nssv2828696, nssv2828776, nssv2828812, nssv2828702, nssv2828705, nssv2829649, nssv2828496, nssv2829664, nssv2828686, nssv2828586, nssv2828634, nssv2828784, nssv2829653, nssv2829631, nssv2828675, nssv2828597, nssv2828735, nssv2828794, nssv2828800, nssv2829638, nssv2829677, nssv2828507, nssv2828827, nssv2829643, nssv2828663, nssv2828625, nssv2828668, nssv2828765, nssv2828541, nssv2828572, nssv2828529, nssv2828690, nssv2828699, nssv2828796, nssv2827871, nssv2828859, nssv2827879, nssv2828655, nssv2828743, nssv2828528, nssv2828692, nssv2828683, nssv2828577, nssv2829634, nssv2828725, nssv2828825, nssv2829636, nssv2828687, nssv2828820, nssv2829646, nssv2828679, nssv2829621, nssv2828574, nssv2828578, nssv2827886, nssv2828519, nssv2828633, nssv2828550, nssv2828841, nssv2828720, nssv2828659, nssv2828579, nssv2828689, nssv2829662, nssv2829633, nssv2828500, nssv2828722, nssv2828826, nssv2829627, nssv2828830, nssv2828697, nssv2828806, nssv2828711, nssv2827876, nssv2829656, nssv2829679, nssv2828582, nssv2828811, nssv2828831, nssv2828642, nssv2828860, nssv2827885, nssv2828684, nssv2828862, nssv2829604, nssv2829617, nssv2829605, nssv2828596, nssv2828749, nssv2828670, nssv2828802, nssv2828778, nssv2829625, nssv2828524, nssv2827877, nssv2828674, nssv2828681, nssv2828772, nssv2828745, nssv2829682, nssv2828650, nssv2828789, nssv2829622, nssv2829665, nssv2829624, nssv2827867, nssv2829620
SamplesNA10859, NA18503, NA12767, NA19012, NA19146, NA21634, NA11881, NA18621, NA19207, NA18870, NA19248, NA12154, NA12818, NA19127, NA12489, NA19194, NA18605, NA21438, NA07347, NA21512, NA19214, NA21441, NA18509, NA21390, NA18594, NA19192, NA18871, NA12286, NA07349, NA12801, NA18523, NA19114, NA18966, NA11920, NA19209, NA21447, NA12347, NA18501, NA19093, NA19120, NA19178, NA10839, NA11918, NA19191, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA21718, NA18516, NA19186, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA19144, NA07348, NA12058, NA18507, NA10855, NA18860, NA21425, NA18994, NA07051, NA21454, NA10837, NA19257, NA21312, NA21361, NA21310, NA19180, NA19236, NA12766, NA12287, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19148, NA19239, NA11839, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA19199, NA18635, NA21488, NA18622, NA10846, NA19197, NA19107, NA18990, NA18636, NA18592, NA19096, NA21363, NA12273, NA12761, NA18956, NA21513, NA10852, NA18959, NA18609, NA18497, NA11843, NA12329, NA11831, NA18485, NA11894, NA12400, NA18637, NA11995, NA18916, NA18593, NA19181, NA12777, NA12234, NA21399, NA12144, NA12751, NA19190, NA19000, NA21442, NA19247, NA12239, NA12145, NA07346, NA12716, NA19129, NA19189, NA21525, NA18633, NA21316, NA12778, NA12348, NA12877, NA21388, NA18968, NA19102, NA12275, NA19005, NA18510, NA19119, NA21455, NA12485, NA19154, NA21382, NA10856, NA21303, NA21485, NA18978, NA11892, NA18961, NA19237, NA18925, NA10836, NA12283, NA18910, NA19141, NA18940, NA19235, NA12891, NA18987, NA12890, NA12146, NA07055, NA19138, NA12272, NA21476, NA10860, NA18909, NA19201, NA21439, NA06991, NA19193, NA19128, NA12812, NA18857, NA19115, NA12889, NA19116, NA21360, NA19123, NA19097, NA19132, NA21383, NA21480, NA10845, NA07022, NA12878, NA21362, NA11830, NA21366, NA19205, NA19225, NA18852, NA19224, NA12546, NA12248, NA18499, NA18924, NA19198, NA12045, NA10840, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA19113, NA18935, NA18981, NA21614, NA18908, NA19177, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA19202, NA07000, NA12775, NA19121, NA10864, NA18980, NA21636, NA21494, NA07031, NA21526, NA07435, NA19142, NA19137, NA19183, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA12748, NA21490, NA11930, NA12344, NA07037, NA21524, NA12802, NA19222, NA21317, NA18933, NA21580, NA18952, NA18975, NA07056, NA18874, NA19173, NA19174, NA19252, NA12752, NA12875, NA21478, NA21599, NA18612, NA18869, NA18500, NA21307, NA19149, NA21404, NA18550, NA18570, NA19003, NA21600, NA18511, NA06989, NA12340, NA21487, NA18948, NA12813, NA18969, NA18972, NA19150, NA18573, NA18608, NA21403, NA21479, NA18542, NA19184, NA21386, NA18855, NA18484, NA19210, NA12776, NA11893, NA18524, NA19108, NA18965, NA21489, NA18488, NA12341, NA12044, NA12376, NA18506, NA18873, NA19147, NA21400, NA10863, NA18632, NA19117, NA11882, NA19161, NA21309, NA12843, NA18998, NA18624, NA18934, NA18508, NA12056, NA18992, NA21686, NA12282, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA12864, NA18563, NA07357, NA12873, NA21301, NA12343, NA18991, NA18930, NA12814, NA12740, NA18856, NA21359, NA07048, NA21453, NA21477, NA18547, NA19182, NA21523, NA12829, NA19256, NA21522, NA18973, NA21608, NA12830, NA19100, NA18970, NA12708, NA19153, NA18518, NA18537, NA18620, NA19122, NA19172, NA07014, NA12892, NA18572, NA19094, NA19103, NA06985, NA19206, NA21717, NA18498, NA18923, NA18486, NA06986, NA18522, NA21514, NA18875, NA18558, NA19098, NA10850, NA21648, NA12872, NA18504, NA19175, NA21381, NA18487, NA18564, NA18942, NA18997, NA19221, NA21475, NA21581, NA18562, NA19131, NA19159, NA18579, NA18974, NA21440, NA18945, NA21313, NA19145, NA21401, NA11832, NA19258, NA21486, NA10851, NA18582, NA18999, NA10857, NA18552, NA21635, NA18907, NA18911, NA19101, NA12749, NA18995, NA21344, NA06984, NA18867, NA21601, NA12375, NA18872, NA12156, NA12386, NA06995, NA21389, NA10835, NA18971, NA10830, NA18577, NA19099, NA11992, NA10838, NA18917, NA11993, NA12399, NA12842, NA19160, NA21583, NA18571, NA19179, NA12817, NA19118, NA18611, NA19095
Known GenesNF1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514835
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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