A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514961



Internal ID15466595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18175451..18198449hg38UCSC Ensembl
Innerchr22:18658218..18681216hg19UCSC Ensembl
Innerchr22:17038218..17061216hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3822999
hg1922999
hg1822999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2859844, nssv2868081, nssv2865218, nssv2862915, nssv2864267, nssv2862202, nssv2858695, nssv2860824, nssv2859219, nssv2867991, nssv2863032, nssv2867191, nssv2867015, nssv2860997, nssv2864765, nssv2864788, nssv2866562, nssv2863921, nssv2862319, nssv2866544, nssv2863067, nssv2868123, nssv2863576, nssv2866419, nssv2858976, nssv2859828, nssv2859982, nssv2867824, nssv2864866, nssv2863414, nssv2860686, nssv2863691, nssv2867517, nssv2864505, nssv2862637, nssv2866807, nssv2861631, nssv2864981, nssv2863195, nssv2862797, nssv2862428, nssv2859435, nssv2864398, nssv2866572, nssv2859344, nssv2861175, nssv2859279, nssv2863800, nssv2861532, nssv2867395, nssv2859139, nssv2866505, nssv2859127, nssv2859687, nssv2864948, nssv2867734, nssv2868272, nssv2863064, nssv2859507, nssv2863737, nssv2860089, nssv2867235, nssv2860119, nssv2868479, nssv2864988, nssv2861782, nssv2868047, nssv2861587, nssv2864116, nssv2861322, nssv2859840, nssv2865124, nssv2861202, nssv2860908, nssv2868037, nssv2864406, nssv2867988, nssv2866828, nssv2865411, nssv2868227, nssv2864560, nssv2858579, nssv2865784, nssv2861372, nssv2865680, nssv2867130, nssv2859493, nssv2864122, nssv2864227, nssv2867077, nssv2861663, nssv2866110, nssv2861293, nssv2861466, nssv2861037, nssv2859930, nssv2863248, nssv2861855, nssv2860961, nssv2866288, nssv2859882, nssv2859845, nssv2865120, nssv2867614, nssv2867695, nssv2859430, nssv2865865, nssv2866958, nssv2860685, nssv2864023, nssv2865652, nssv2863765, nssv2863519, nssv2866589, nssv2866386, nssv2860885, nssv2868136, nssv2859504, nssv2858598, nssv2862311, nssv2867806, nssv2858796, nssv2862590, nssv2861508, nssv2858753, nssv2864033, nssv2863860, nssv2863657, nssv2862157, nssv2865171, nssv2862944, nssv2858831, nssv2863488, nssv2865923, nssv2862873, nssv2859414, nssv2860167, nssv2863299, nssv2861247, nssv2864164, nssv2859394, nssv2863564, nssv2859981, nssv2863493, nssv2866238, nssv2863492, nssv2864814, nssv2861849, nssv2867070, nssv2864258, nssv2866237, nssv2866338, nssv2859260, nssv2865127, nssv2865932, nssv2859052, nssv2861763, nssv2862758, nssv2868146, nssv2865748, nssv2862793, nssv2867548, nssv2864010, nssv2864313, nssv2861107, nssv2867436, nssv2866620, nssv2866093, nssv2862404, nssv2859272, nssv2858938, nssv2863211, nssv2868257, nssv2868145, nssv2866109, nssv2862801, nssv2861775, nssv2868240, nssv2864078, nssv2861969, nssv2866418, nssv2867241, nssv2867675, nssv2860914, nssv2860791, nssv2863948, nssv2866083, nssv2861119, nssv2865366, nssv2861401, nssv2865394, nssv2860586, nssv2863936, nssv2861614, nssv2863096, nssv2863584, nssv2863913, nssv2859291, nssv2860000, nssv2859618, nssv2864415, nssv2859314, nssv2861759, nssv2859202, nssv2864450, nssv2864631, nssv2868261, nssv2864003, nssv2864831, nssv2862782, nssv2866305, nssv2861941, nssv2863774, nssv2861417, nssv2861931, nssv2862531, nssv2862448, nssv2862171, nssv2865156, nssv2865493, nssv2862145, nssv2865727, nssv2866834, nssv2860995, nssv2863362, nssv2865429, nssv2867923, nssv2866172, nssv2866227, nssv2861484, nssv2862638, nssv2861446, nssv2866801, nssv2868107, nssv2862039, nssv2866173, nssv2863603, nssv2865666, nssv2866681, nssv2861187, nssv2860455, nssv2866513, nssv2860712, nssv2866068, nssv2864056, nssv2864249, nssv2866020, nssv2862094, nssv2865813, nssv2863560, nssv2859461, nssv2867236, nssv2865627, nssv2866603, nssv2860208, nssv2859617, nssv2865596, nssv2866613, nssv2867230, nssv2860271, nssv2867975, nssv2862890, nssv2863317, nssv2867247, nssv2862048, nssv2865561, nssv2862191, nssv2868017, nssv2868391, nssv2864794, nssv2868141, nssv2865309, nssv2866174, nssv2858721, nssv2864207, nssv2861461, nssv2867396, nssv2862719, nssv2861212, nssv2861188, nssv2861192, nssv2861159, nssv2860784, nssv2864703, nssv2860301, nssv2861543, nssv2860408, nssv2868206, nssv2861850, nssv2858744, nssv2863739, nssv2860552, nssv2867668, nssv2862019, nssv2863952, nssv2866762, nssv2863595, nssv2865915, nssv2866902, nssv2859287, nssv2867012, nssv2860401, nssv2858667, nssv2863341, nssv2862543, nssv2862724, nssv2864614, nssv2865119, nssv2860960, nssv2859395, nssv2867243, nssv2867229, nssv2866642, nssv2865267, nssv2861331, nssv2859467, nssv2863242, nssv2861071, nssv2863047, nssv2864085, nssv2863217, nssv2860802, nssv2864069, nssv2866875, nssv2859765, nssv2863514, nssv2865858, nssv2864307, nssv2861932, nssv2859535, nssv2859302, nssv2862328, nssv2864729, nssv2863431, nssv2861304, nssv2864062, nssv2865960, nssv2866488, nssv2865849, nssv2859171, nssv2862963, nssv2859215, nssv2863391, nssv2866247, nssv2860257, nssv2863622, nssv2863262, nssv2865224, nssv2861644, nssv2867437, nssv2860538, nssv2868294, nssv2865300, nssv2867872, nssv2859400, nssv2865517, nssv2865658, nssv2858565, nssv2865737, nssv2861280, nssv2860484, nssv2867091, nssv2865188, nssv2867115, nssv2862510, nssv2862040, nssv2860154, nssv2868334, nssv2865502, nssv2866259, nssv2863937, nssv2864550, nssv2865968, nssv2858689, nssv2859843, nssv2867831, nssv2863877, nssv2860262, nssv2862359, nssv2861822, nssv2860344, nssv2860315, nssv2865498, nssv2861965, nssv2865002, nssv2859590, nssv2863076, nssv2862560, nssv2868009, nssv2860035, nssv2864496, nssv2867925, nssv2861794, nssv2861670, nssv2858583, nssv2868280, nssv2862270, nssv2862751, nssv2863530, nssv2861588, nssv2865315, nssv2866882, nssv2862957, nssv2867467, nssv2864439, nssv2864608, nssv2859329, nssv2867586, nssv2858803, nssv2860163, nssv2865088, nssv2860329, nssv2865919, nssv2865983, nssv2865488, nssv2867408, nssv2866135, nssv2868228, nssv2863298, nssv2863597, nssv2859821, nssv2867625, nssv2864748, nssv2860341, nssv2864030, nssv2859396, nssv2863550, nssv2861051, nssv2860861, nssv2866392, nssv2861682, nssv2860663, nssv2860289, nssv2865490, nssv2861176, nssv2860987, nssv2859477, nssv2858924, nssv2866545, nssv2862670, nssv2859042, nssv2861310, nssv2865840, nssv2866703, nssv2859766, nssv2866196, nssv2866504, nssv2863547, nssv2860010, nssv2865702, nssv2860869, nssv2860114, nssv2868345, nssv2867392, nssv2863418, nssv2864041, nssv2862567, nssv2860247, nssv2864728, nssv2866356, nssv2864954, nssv2868262, nssv2862672, nssv2863853, nssv2860477, nssv2860034, nssv2865184, nssv2867108, nssv2862423, nssv2863411, nssv2860606, nssv2868396, nssv2859074, nssv2864938, nssv2864335, nssv2862135, nssv2863930, nssv2862491, nssv2858515, nssv2862877, nssv2864904, nssv2863540, nssv2863848, nssv2862517, nssv2864555, nssv2865739, nssv2867242, nssv2860545
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 GenesUSP18
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514961
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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