A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514968



Internal ID15466602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26775639..26775965hg38UCSC Ensembl
Innerchr22:27171602..27171928hg19UCSC Ensembl
Innerchr22:25501602..25501928hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2871412, nssv2871373, nssv2869589, nssv2871189, nssv2871191, nssv2871182, nssv2869473, nssv2871206, nssv2871120, nssv2871274, nssv2869469, nssv2869510, nssv2869479, nssv2869547, nssv2869548, nssv2871240, nssv2869525, nssv2871344, nssv2869521, nssv2871340, nssv2869534, nssv2869465, nssv2869533, nssv2871175, nssv2871390, nssv2871204, nssv2871209, nssv2871108, nssv2871369, nssv2871145, nssv2871270, nssv2871263, nssv2869486, nssv2871246, nssv2869498, nssv2869499, nssv2869575, nssv2869471, nssv2871295, nssv2871293, nssv2871201, nssv2871400, nssv2871081, nssv2869585, nssv2868868, nssv2871255, nssv2871241, nssv2871310, nssv2869560, nssv2871147, nssv2871098, nssv2871280, nssv2871285, nssv2871225, nssv2871165, nssv2871251, nssv2871119, nssv2871256, nssv2871376, nssv2869577, nssv2871276, nssv2871257, nssv2871213, nssv2871208, nssv2869466, nssv2869599, nssv2871342, nssv2871143, nssv2871364, nssv2871141, nssv2869467, nssv2871161, nssv2871326, nssv2869532, nssv2869538, nssv2871172, nssv2869478, nssv2871268, nssv2869586, nssv2869524, nssv2869513, nssv2869564, nssv2869584, nssv2869601, nssv2871121, nssv2871271, nssv2871217, nssv2871203, nssv2871111, nssv2869566, nssv2871094, nssv2869535, nssv2869536, nssv2871279, nssv2871187, nssv2871305, nssv2871148, nssv2871130, nssv2871253, nssv2869596, nssv2871146, nssv2871324, nssv2869487, nssv2871216, nssv2869545, nssv2871084, nssv2871170, nssv2869517, nssv2871243, nssv2871398, nssv2871269, nssv2871200, nssv2869482, nssv2871154, nssv2871197, nssv2869520, nssv2871370, nssv2869556, nssv2869587, nssv2871381, nssv2869551, nssv2871239, nssv2871135, nssv2869529, nssv2869474, nssv2871138, nssv2871101, nssv2871137, nssv2869464, nssv2871220, nssv2869549, nssv2869594, nssv2871314, nssv2871194, nssv2868867, nssv2869506, nssv2871149, nssv2871080, nssv2871368, nssv2869558, nssv2869578, nssv2871176, nssv2871258, nssv2871152, nssv2871329, nssv2869491, nssv2869539, nssv2869502, nssv2871228, nssv2869573, nssv2871159, nssv2871312, nssv2871372, nssv2871300, nssv2871343, nssv2871249, nssv2871277, nssv2869461, nssv2869507, nssv2869600, nssv2871409, nssv2871085, nssv2871297, nssv2871244, nssv2871335, nssv2869557, nssv2871286, nssv2871087, nssv2871331, nssv2871115, nssv2871388, nssv2869458, nssv2871134, nssv2871252, nssv2869484, nssv2869598, nssv2871259, nssv2869572, nssv2869514, nssv2871157, nssv2869527, nssv2869537, nssv2871290, nssv2871386, nssv2871296, nssv2871114, nssv2871306, nssv2871214, nssv2869518, nssv2871219, nssv2871190, nssv2869569, nssv2871402, nssv2869555, nssv2869576, nssv2871325, nssv2869541, nssv2871174, nssv2871193, nssv2871371, nssv2871235, nssv2871140, nssv2871232, nssv2871238, nssv2871407, nssv2871316, nssv2869543, nssv2869583, nssv2871242, nssv2869554, nssv2869588, nssv2869592, nssv2869495, nssv2871106, nssv2871102, nssv2871100, nssv2871095, nssv2871358, nssv2871393, nssv2869544, nssv2869562, nssv2871283, nssv2869591, nssv2871168, nssv2868866, nssv2869581, nssv2871221, nssv2871356, nssv2871360, nssv2869497, nssv2869580, nssv2869500, nssv2869590, nssv2871266, nssv2871112, nssv2871350, nssv2871362, nssv2871205, nssv2871188, nssv2871153, nssv2871303, nssv2871336, nssv2871284, nssv2871387, nssv2869561, nssv2871391, nssv2869528, nssv2871345, nssv2871395, nssv2871309, nssv2871330, nssv2871192, nssv2869542, nssv2871399, nssv2871374, nssv2871093, nssv2871299, nssv2871250, nssv2871355, nssv2871158, nssv2869512, nssv2871223, nssv2871104, nssv2871363, nssv2869519, nssv2869593, nssv2871125, nssv2871164, nssv2871215, nssv2869488, nssv2869489, nssv2871379, nssv2871272, nssv2871181, nssv2871404, nssv2871128, nssv2871383, nssv2871131, nssv2871231, nssv2871162, nssv2871248, nssv2869494, nssv2871281, nssv2871302, nssv2871323, nssv2869553, nssv2871224, nssv2869565, nssv2871352, nssv2871122, nssv2871389, nssv2871320, nssv2871180, nssv2871086, nssv2871346, nssv2871234, nssv2871139, nssv2871411, nssv2869508, nssv2871103, nssv2869460, nssv2869468, nssv2871315, nssv2871359, nssv2869503, nssv2871245, nssv2871129, nssv2868870, nssv2871291, nssv2871207, nssv2871117, nssv2871126, nssv2869522, nssv2871378, nssv2869459, nssv2871405, nssv2869483, nssv2871308, nssv2871396, nssv2871354, nssv2871294, nssv2871382, nssv2869516, nssv2871109, nssv2869526, nssv2871408, nssv2869540, nssv2871196, nssv2869582, nssv2868865, nssv2871089, nssv2871151, nssv2869481, nssv2871361, nssv2871132, nssv2869485, nssv2871267, nssv2871222, nssv2871113, nssv2871333, nssv2871341, nssv2871236, nssv2869574, nssv2871292, nssv2871226, nssv2871156, nssv2869504, nssv2871394, nssv2871127, nssv2871318, nssv2871163, nssv2871173, nssv2869462, nssv2869552, nssv2871097, nssv2868864, nssv2871202, nssv2869509, nssv2869530, nssv2871265, nssv2871351, nssv2871264, nssv2871288, nssv2871278, nssv2871184, nssv2871357, nssv2871229, nssv2869550, nssv2871365, nssv2869595, nssv2871118, nssv2871088, nssv2871177, nssv2871079, nssv2871133, nssv2871401, nssv2871317, nssv2871171, nssv2871179, nssv2871403, nssv2869505, nssv2869463, nssv2871377, nssv2871218, nssv2871099, nssv2869563, nssv2871254, nssv2871082, nssv2871349, nssv2871230, nssv2871406, nssv2871338, nssv2871150, nssv2871273, nssv2871237, nssv2869496, nssv2871116, nssv2871155, nssv2871322, nssv2871366, nssv2869476, nssv2871195, nssv2871410, nssv2871260, nssv2869546, nssv2871275, nssv2869515, nssv2871211, nssv2871090, nssv2871327, nssv2871123, nssv2869597, nssv2871212, nssv2871380, nssv2871096, nssv2871307, nssv2869472, nssv2871397, nssv2869490, nssv2869511, nssv2871328, nssv2869531, nssv2871185, nssv2871247, nssv2871319, nssv2871261, nssv2871142, nssv2871301, nssv2869570, nssv2869579, nssv2871298, nssv2871167, nssv2871347, nssv2871233, nssv2871124, nssv2871353, nssv2871287, nssv2871091, nssv2869492, nssv2871210, nssv2871160, nssv2869559, nssv2871078, nssv2871304, nssv2871105, nssv2871282, nssv2871384, nssv2869501, nssv2871385, nssv2869568, nssv2871348, nssv2871186, nssv2869571, nssv2869480, nssv2869567, nssv2871337, nssv2871227, nssv2869470, nssv2871311, nssv2871339, nssv2871144, nssv2871321, nssv2871367, nssv2871375, nssv2871083, nssv2871169, nssv2871178, nssv2871092, nssv2871198, nssv2871332, nssv2869475, nssv2871334, nssv2871199, nssv2871183, nssv2868869, nssv2871313, nssv2871136, nssv2869477, nssv2871110, nssv2871392, nssv2869493, nssv2871166, nssv2869523, nssv2871107, nssv2871289, nssv2871262
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, NA18611, NA19095, 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, NA18917, NA11993, NA12399, NA12842, NA19160, NA21583, NA18571, NA19179, NA12817, NA19118
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514968
Frequency
Sample Size2366
Observed Gain486
Observed Loss0
Observed Complex0
Frequencyn/a


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