A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515035



Internal ID15466669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31985264..31990776hg38UCSC Ensembl
Innerchr6:31953041..31958553hg19UCSC Ensembl
Innerchr6:32061020..32066532hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385513
hg195513
hg185513
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2932745, nssv2932761, nssv2935151, nssv2935204, nssv2934376, nssv2932699, nssv2932634, nssv2932687, nssv2932818, nssv2935120, nssv2932783, nssv2932620, nssv2932845, nssv2934381, nssv2935091, nssv2935206, nssv2932651, nssv2935188, nssv2932803, nssv2932736, nssv2932630, nssv2935090, nssv2932799, nssv2932836, nssv2932697, nssv2932696, nssv2935166, nssv2932840, nssv2932693, nssv2935136, nssv2935199, nssv2932715, nssv2934331, nssv2932828, nssv2935177, nssv2935122, nssv2934389, nssv2934358, nssv2932813, nssv2935217, nssv2934382, nssv2932692, nssv2935073, nssv2932690, nssv2932822, nssv2934356, nssv2932784, nssv2934390, nssv2932718, nssv2934364, nssv2935079, nssv2934332, nssv2932831, nssv2932760, nssv2932796, nssv2935089, nssv2932716, nssv2932698, nssv2932609, nssv2935150, nssv2932688, nssv2934384, nssv2932852, nssv2932817, nssv2932821, nssv2932660, nssv2934368, nssv2934378, nssv2935218, nssv2935114, nssv2935211, nssv2932816, nssv2934385, nssv2932757, nssv2932672, nssv2935097, nssv2934397, nssv2932833, nssv2932646, nssv2932842, nssv2932641, nssv2932793, nssv2932731, nssv2932644, nssv2935194, nssv2932747, nssv2932686, nssv2935117, nssv2932791, nssv2935163, nssv2932829, nssv2934383, nssv2934348, nssv2935175, nssv2935186, nssv2932740, nssv2932790, nssv2932782, nssv2934360, nssv2932808, nssv2932785, nssv2932650, nssv2932618, nssv2935072, nssv2935113, nssv2932704, nssv2934335, nssv2932729, nssv2932807, nssv2935134, nssv2932767, nssv2935077, nssv2935179, nssv2932722, nssv2935103, nssv2935164, nssv2935082, nssv2934341, nssv2932629, nssv2932671, nssv2935069, nssv2934374, nssv2932792, nssv2932669, nssv2934391, nssv2934370, nssv2932615, nssv2932661, nssv2932622, nssv2934371, nssv2935155, nssv2934353, nssv2935108, nssv2935207, nssv2935169, nssv2932608, nssv2935074, nssv2934392, nssv2932806, nssv2934372, nssv2932724, nssv2935180, nssv2932667, nssv2932663, nssv2935109, nssv2932804, nssv2932616, nssv2935215, nssv2935182, nssv2932780, nssv2935195, nssv2932776, nssv2932815, nssv2932835, nssv2932753, nssv2932656, nssv2932853, nssv2932746, nssv2932737, nssv2932713, nssv2935106, nssv2932738, nssv2935167, nssv2932612, nssv2932607, nssv2932752, nssv2932664, nssv2935139, nssv2932741, nssv2935095, nssv2935183, nssv2935196, nssv2932754, nssv2932694, nssv2932841, nssv2935081, nssv2932678, nssv2935181, nssv2932725, nssv2934362, nssv2932668, nssv2932812, nssv2932679, nssv2935184, nssv2935190, nssv2934355, nssv2932603, nssv2934337, nssv2932823, nssv2932627, nssv2935193, nssv2934357, nssv2935070, nssv2932814, nssv2932732, nssv2932613, nssv2932682, nssv2935123, nssv2932762, nssv2935076, nssv2932611, nssv2934386, nssv2935160, nssv2934367, nssv2935140, nssv2932705, nssv2932742, nssv2932723, nssv2932758, nssv2932652, nssv2935132, nssv2932680, nssv2932657, nssv2932683, nssv2935115, nssv2935078, nssv2932635, nssv2935173, nssv2934339, nssv2932763, nssv2932734, nssv2932623, nssv2932839, nssv2932681, nssv2932677, nssv2935185, nssv2932768, nssv2932759, nssv2935102, nssv2932770, nssv2932832, nssv2935071, nssv2935172, nssv2935191, nssv2932727, nssv2932708, nssv2935133, nssv2932655, nssv2932707, nssv2935129, nssv2934343, nssv2932653, nssv2932846, nssv2935162, nssv2935100, nssv2932684, nssv2935159, nssv2935099, nssv2935126, nssv2935174, nssv2934363, nssv2932733, nssv2935112, nssv2934333, nssv2932617, nssv2932662, nssv2932749, nssv2932633, nssv2935119, nssv2932670, nssv2935168, nssv2932721, nssv2932756, nssv2935125, nssv2935143, nssv2935152, nssv2935142, nssv2934349, nssv2932625, nssv2935096, nssv2932610, nssv2935083, nssv2932659, nssv2932837, nssv2934351, nssv2935171, nssv2935111, nssv2932719, nssv2932802, nssv2932710, nssv2932703, nssv2934393, nssv2932658, nssv2935086, nssv2935138, nssv2932604, nssv2932711, nssv2932637, nssv2935192, nssv2932712, nssv2935092, nssv2932772, nssv2935214, nssv2932838, nssv2935170, nssv2934344, nssv2935158, nssv2935116, nssv2932778, nssv2932648, nssv2935205, nssv2935197, nssv2935144, nssv2932675, nssv2932786, nssv2932654, nssv2935161, nssv2935101, nssv2935148, nssv2932820, nssv2935093, nssv2932691, nssv2932647, nssv2935127, nssv2935080, nssv2935105, nssv2932765, nssv2935084, nssv2934375, nssv2932676, nssv2932801, nssv2932674, nssv2935088, nssv2935198, nssv2932773, nssv2935110, nssv2935130, nssv2932794, nssv2932766, nssv2934336, nssv2934338, nssv2932605, nssv2932720, nssv2932795, nssv2934365, nssv2934359, nssv2932810, nssv2932774, nssv2935157, nssv2932769, nssv2932854, nssv2935118, nssv2932714, nssv2935135, nssv2934377, nssv2935124, nssv2932685, nssv2935178, nssv2932771, nssv2932645, nssv2932639, nssv2935210, nssv2932602, nssv2935209, nssv2935208, nssv2932624, nssv2932640, nssv2935149, nssv2932642, nssv2932777, nssv2935145, nssv2934380, nssv2935085, nssv2932626, nssv2932809, nssv2932751, nssv2935165, nssv2932701, nssv2935098, nssv2932743, nssv2932700, nssv2932632, nssv2932834, nssv2935156, nssv2935131, nssv2935146, nssv2934334, nssv2932649, nssv2935147, nssv2932730, nssv2935202, nssv2932728, nssv2932665, nssv2932811, nssv2932826, nssv2932717, nssv2934346, nssv2932606, nssv2935203, nssv2935087, nssv2932636, nssv2932689, nssv2932750, nssv2935128, nssv2934354, nssv2934379, nssv2932805, nssv2935216, nssv2935107, nssv2932628, nssv2934395, nssv2932825, nssv2935121, nssv2932621, nssv2932827, nssv2932844, nssv2932638, nssv2932850, nssv2935189, nssv2932643, nssv2932666, nssv2934345, nssv2932787, nssv2932709, nssv2932631, nssv2935212, nssv2935200, nssv2935104, nssv2935187, nssv2934388, nssv2932706, nssv2932775, nssv2932848, nssv2934347, nssv2935075, nssv2932614, nssv2935154, nssv2934342, nssv2932830, nssv2932744, nssv2934396, nssv2932798, nssv2932619, nssv2932797, nssv2932739, nssv2932843, nssv2932847, nssv2935176, nssv2934366, nssv2935153, nssv2934394, nssv2932695, nssv2932702, nssv2934398, nssv2935094, nssv2932726, nssv2932788, nssv2934350, nssv2935213, nssv2932800, nssv2934352, nssv2932819, nssv2932789, nssv2935137, nssv2934369, nssv2932735, nssv2935141, nssv2932764, nssv2932781, nssv2934340, nssv2932748, nssv2935201, nssv2932755, nssv2932824, nssv2932779, nssv2934387, nssv2934373, nssv2932849, nssv2932673, nssv2934361, nssv2932851
SamplesNA21636, NA21317, NA21488, NA18621, NA18947, NA18524, NA12414, NA12843, NA11920, NA18999, 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, 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, NA19223, NA18609, NA19102, NA21384, NA19121, NA19129, NA18624, NA21487, NA18612, NA10837, NA18487, NA18577, NA11832, NA21403, NA18998, NA18497, 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, NA21513, NA19143, NA19109, NA19248, NA21404, NA19173, NA18987, NA12749, NA12830, NA18506, NA21614, NA21486, NA18972, NA18552, NA21303, NA19146, NA19148, 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, 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, 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, NA19180, NA18874, NA12274, NA06984, NA21454, NA19137, NA21478, NA10855, NA21634, NA21442, NA18975, NA19200, NA21494, NA11993, NA11831, NA10847, NA21480, NA12335, NA19210, NA18934, NA10836, NA12343, NA10831, NA19152, NA18956, NA19205, NA18516, NA12376, NA18503, NA11839, NA10838, NA21485, NA19179, NA18566, NA21441, NA11894, NA10830, 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, NA18511, NA07000, NA18522, NA07034, NA18622, NA18562, NA12776, NA18965
Known GenesC4A, C4B, C4B_2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515035
Frequency
Sample Size2366
Observed Gain470
Observed Loss1
Observed Complex0
Frequencyn/a


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