A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514486



Internal ID15466172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25209591..25213063hg38UCSC Ensembl
Innerchr8:25067107..25070579hg19UCSC Ensembl
Innerchr8:25123024..25126496hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383473
hg193473
hg183473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2960948, nssv2960760, nssv2959591, nssv2959572, nssv2960773, nssv2960742, nssv2960982, nssv2960841, nssv2960824, nssv2960768, nssv2960827, nssv2959588, nssv2960711, nssv2961033, nssv2960741, nssv2960826, nssv2960868, nssv2961016, nssv2960778, nssv2960918, nssv2960987, nssv2960713, nssv2960943, nssv2961043, nssv2959571, nssv2960852, nssv2960859, nssv2960733, nssv2960724, nssv2961029, nssv2960904, nssv2960941, nssv2960860, nssv2958877, nssv2960966, nssv2958870, nssv2960920, nssv2960818, nssv2960882, nssv2960897, nssv2961007, nssv2960898, nssv2958866, nssv2958875, nssv2960861, nssv2960716, nssv2959568, nssv2961027, nssv2960810, nssv2960804, nssv2958878, nssv2960782, nssv2960894, nssv2960755, nssv2960864, nssv2960723, nssv2960936, nssv2959589, nssv2960780, nssv2960849, nssv2960714, nssv2960795, nssv2960836, nssv2960884, nssv2960874, nssv2960866, nssv2960955, nssv2961006, nssv2960828, nssv2960754, nssv2960901, nssv2961038, nssv2960909, nssv2960717, nssv2960929, nssv2960750, nssv2960728, nssv2959598, nssv2958874, nssv2960937, nssv2960978, nssv2961023, nssv2961041, nssv2961037, nssv2961025, nssv2959579, nssv2960938, nssv2961042, nssv2960967, nssv2960718, nssv2960988, nssv2960922, nssv2959559, nssv2960970, nssv2960834, nssv2960759, nssv2960947, nssv2961001, nssv2960729, nssv2960876, nssv2960911, nssv2959564, nssv2960790, nssv2960774, nssv2960758, nssv2961013, nssv2960736, nssv2960771, nssv2960805, nssv2960715, nssv2960749, nssv2960745, nssv2960886, nssv2960927, nssv2960802, nssv2961011, nssv2960883, nssv2959601, nssv2960915, nssv2960807, nssv2960900, nssv2960809, nssv2960725, nssv2960855, nssv2961002, nssv2960857, nssv2959570, nssv2958867, nssv2960924, nssv2960743, nssv2960734, nssv2960732, nssv2958864, nssv2960792, nssv2960879, nssv2960748, nssv2960822, nssv2960837, nssv2960892, nssv2960902, nssv2960789, nssv2960957, nssv2960972, nssv2960767, nssv2960721, nssv2960777, nssv2960907, nssv2961030, nssv2959585, nssv2959581, nssv2958868, nssv2959575, nssv2960971, nssv2960944, nssv2959586, nssv2958872, nssv2960880, nssv2960798, nssv2960843, nssv2960766, nssv2960709, nssv2960986, nssv2960908, nssv2960788, nssv2960917, nssv2960791, nssv2960932, nssv2958865, nssv2960893, nssv2960910, nssv2960722, nssv2960817, nssv2960819, nssv2960872, nssv2960969, nssv2960853, nssv2960719, nssv2960815, nssv2960797, nssv2960751, nssv2960889, nssv2960895, nssv2961032, nssv2958871, nssv2960961, nssv2960975, nssv2960830, nssv2961024, nssv2960925, nssv2959592, nssv2960992, nssv2960801, nssv2961036, nssv2961022, nssv2960839, nssv2960727, nssv2961040, nssv2960999, nssv2960793, nssv2960720, nssv2961000, nssv2960763, nssv2960747, nssv2960710, nssv2960781, nssv2960739, nssv2960939, nssv2960916, nssv2961039, nssv2960877, nssv2960945, nssv2959573, nssv2960813, nssv2960956, nssv2960977, nssv2960753, nssv2959560, nssv2960963, nssv2960761, nssv2960958, nssv2960934, nssv2960940, nssv2960959, nssv2960903, nssv2960997, nssv2960823, nssv2959566, nssv2960838, nssv2960779, nssv2960821, nssv2961003, nssv2960888, nssv2959590, nssv2960794, nssv2960878, nssv2960960, nssv2961021, nssv2960757, nssv2959567, nssv2960829, nssv2960833, nssv2961009, nssv2960844, nssv2960942, nssv2960846, nssv2961017, nssv2960873, nssv2960993, nssv2960930, nssv2959599, nssv2960998, nssv2959565, nssv2960854, nssv2960965, nssv2960832, nssv2960928, nssv2960786, nssv2960770, nssv2960989, nssv2959580, nssv2959578, nssv2960785, nssv2960845, nssv2961031, nssv2961018, nssv2960731, nssv2960981, nssv2959594, nssv2960990, nssv2960906, nssv2960799, nssv2961005, nssv2960994, nssv2960787, nssv2960983, nssv2959563, nssv2960865, nssv2959584, nssv2959562, nssv2960968, nssv2961008, nssv2960847, nssv2960835, nssv2960712, nssv2961019, nssv2958876, nssv2961010, nssv2960899, nssv2960933, nssv2960738, nssv2959595, nssv2960896, nssv2960926, nssv2960769, nssv2960814, nssv2960803, nssv2958879, nssv2961015, nssv2960726, nssv2960856, nssv2960784, nssv2960850, nssv2960996, nssv2960931, nssv2960964, nssv2960881, nssv2960756, nssv2960923, nssv2960952, nssv2960858, nssv2960812, nssv2961028, nssv2960976, nssv2961034, nssv2960875, nssv2960775, nssv2960946, nssv2960913, nssv2960914, nssv2960954, nssv2960840, nssv2959582, nssv2960740, nssv2960890, nssv2960962, nssv2958869, nssv2960973, nssv2960744, nssv2960772, nssv2960949, nssv2960764, nssv2959593, nssv2960806, nssv2960783, nssv2960752, nssv2960867, nssv2960919, nssv2960980, nssv2960921, nssv2960991, nssv2960995, nssv2959577, nssv2960985, nssv2960737, nssv2961004, nssv2959600, nssv2961014, nssv2960905, nssv2959569, nssv2960951, nssv2960950, nssv2960796, nssv2960735, nssv2960863, nssv2960800, nssv2960765, nssv2959597, nssv2960953, nssv2959574, nssv2961020, nssv2960891, nssv2960869, nssv2960912, nssv2960887, nssv2959596, nssv2960776, nssv2960979, nssv2960842, nssv2958873, nssv2960746, nssv2960935, nssv2960870, nssv2960831, nssv2960848, nssv2960871, nssv2960885, nssv2959561, nssv2960811, nssv2960851, nssv2960820, nssv2961035, nssv2960825, nssv2959576, nssv2960808, nssv2961026, nssv2960862, nssv2960816, nssv2959587, nssv2961012, nssv2960730, nssv2960974, nssv2960984, nssv2959583, nssv2960762
SamplesNA10859, NA18503, NA12767, NA19012, NA21634, NA11881, NA18621, NA19207, NA18870, NA19248, NA12154, NA12818, NA19127, NA12489, NA19194, NA18605, NA07347, NA21512, NA19214, NA21441, NA18509, NA21390, NA07349, NA12801, NA18523, NA19114, NA18966, NA11920, NA19209, NA21447, NA12347, NA18501, NA19178, NA10839, NA11918, NA18859, NA19223, NA12815, NA10847, NA18603, NA21718, NA19186, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA19144, NA07348, NA12058, NA18507, NA10855, NA21425, NA18994, NA21454, NA10837, NA19257, NA21361, NA21310, NA19180, NA19236, NA12766, NA12287, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA12414, NA11919, NA12763, NA19211, NA18967, NA19239, NA11839, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA18635, NA21488, NA18622, NA10846, NA19107, NA18990, NA18636, NA18592, NA19096, NA21363, NA12273, NA12761, NA21513, NA10852, NA18959, NA18609, NA18497, NA11843, NA12329, NA11831, NA18485, NA11894, NA12400, NA18637, NA18593, NA12234, NA21399, NA12144, NA18970, NA12751, NA19000, NA21442, NA12239, NA12708, NA12145, NA19153, NA07346, NA12716, NA18518, NA18537, NA18620, NA19129, NA19172, NA21525, NA07014, NA12892, NA18633, NA18572, NA19094, NA21316, NA06985, NA12778, NA21717, NA12348, NA12877, NA18498, NA21388, NA18923, NA18486, NA18968, NA19102, NA06986, NA21514, NA12275, NA19005, NA19119, NA21455, NA12485, NA18558, NA19098, NA19154, NA21382, NA10850, NA21648, NA10856, NA12872, NA18504, NA19175, NA21303, NA21485, NA18978, NA21381, NA11892, NA18564, NA18942, NA18961, NA19237, NA18925, NA18997, NA10836, NA21475, NA21581, NA12283, NA18562, NA19159, NA18579, NA18974, NA18945, NA19141, NA18940, NA19145, NA21401, NA11832, NA19235, NA19258, NA12891, NA10851, NA12890, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA12272, NA21476, NA10860, NA18907, NA18909, NA19101, NA21439, NA12749, NA18995, NA06991, NA06984, NA19193, NA21601, NA12375, NA19128, NA12812, NA19115, NA12386, NA06995, NA12889, NA21389, NA18971, NA19097, NA21383, NA10830, NA10845, NA18577, NA07022, NA12878, NA11830, NA11992, NA19225, NA10838, NA18852, NA18917, NA19224, NA11993, NA12399, NA12546, NA12842, NA19160, NA21583, NA12248, NA18499, NA18571, NA19179, NA12817, NA19118, NA12045, NA10840, NA11829, NA12236, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA18935, NA18981, NA21614, NA18908, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA19202, NA07000, NA12775, NA10864, NA18980, NA21494, NA07031, NA21526, NA07435, NA19142, NA19137, NA19183, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA12748, NA21490, NA11930, NA12344, NA07037, NA21524, NA12802, NA21317, NA18933, NA18952, NA18975, NA07056, NA18874, NA19173, NA19252, NA12752, NA12875, NA21478, NA21599, NA18869, NA21307, NA19149, NA18570, NA19003, NA21600, NA18511, NA06989, NA12340, NA21487, NA18948, NA12813, NA18969, NA18972, NA19150, NA18573, NA18608, NA18542, NA19184, NA21386, NA19210, NA12776, NA11893, NA18965, NA21489, NA12341, NA12044, NA12376, NA18506, NA10863, NA18632, NA11882, NA19161, NA21309, NA12843, NA18998, NA18624, NA18508, NA12056, NA18992, NA21686, NA12282, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA12864, NA18563, NA07357, NA12873, NA12343, NA18991, NA18930, NA12740, NA18856, NA21359, NA07048, NA21453, NA21477, NA18547, NA19182, NA21523, NA12829, NA19256, NA18973, NA21608, NA12830, NA19100
Known GenesDOCK5
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514486
Frequency
Sample Size2366
Observed Gain0
Observed Loss394
Observed Complex0
Frequencyn/a


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