Variant DetailsVariant: nsv514912 | Internal ID | 15813271 | | Landmark | | | Location Information | | | Cytoband | 1p12 | | Allele length | | Assembly | Allele length | | hg38 | 54905 | | hg19 | 54905 | | hg18 | 54905 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv2848330, nssv2848139, nssv2848372, nssv2848297, nssv2848219, nssv2848211, nssv2848261, nssv2848028, nssv2848151, nssv2847981, nssv2848222, nssv2848345, nssv2847956, nssv2848186, nssv2848118, nssv2848062, nssv2848348, nssv2848394, nssv2847986, nssv2848054, nssv2848050, nssv2848358, nssv2848103, nssv2848254, nssv2848113, nssv2848085, nssv2848370, nssv2847992, nssv2848271, nssv2848380, nssv2848026, nssv2848360, nssv2848152, nssv2848290, nssv2848373, nssv2848365, nssv2848138, nssv2848119, nssv2847932, nssv2848089, nssv2847993, nssv2848056, nssv2848361, nssv2848161, nssv2848042, nssv2847942, nssv2847963, nssv2848018, nssv2848371, nssv2848220, nssv2848126, nssv2848243, nssv2848130, nssv2848033, nssv2848074, nssv2848022, nssv2848291, nssv2848306, nssv2848129, nssv2848201, nssv2847995, nssv2847974, nssv2848343, nssv2847940, nssv2848159, nssv2848107, nssv2848379, nssv2848208, nssv2848244, nssv2848199, nssv2848009, nssv2848210, nssv2848166, nssv2848153, nssv2848368, nssv2848318, nssv2848146, nssv2847982, nssv2848106, nssv2847920, nssv2848292, nssv2848259, nssv2848221, nssv2848021, nssv2848315, nssv2848114, nssv2848307, nssv2847969, nssv2848167, nssv2848182, nssv2848333, nssv2848086, nssv2848383, nssv2848238, nssv2848105, nssv2848099, nssv2848249, nssv2848234, nssv2848084, nssv2847928, nssv2848256, nssv2847916, nssv2848384, nssv2848295, nssv2848341, nssv2848388, nssv2848263, nssv2848328, nssv2848067, nssv2848007, nssv2848127, nssv2848087, nssv2848262, nssv2848063, nssv2848002, nssv2848322, nssv2848252, nssv2847952, nssv2848353, nssv2848116, nssv2848075, nssv2847913, nssv2848132, nssv2847917, nssv2848310, nssv2848004, nssv2847941, nssv2848255, nssv2848155, nssv2847933, nssv2848068, nssv2848320, nssv2848019, nssv2848275, nssv2847914, nssv2848176, nssv2848061, nssv2847989, nssv2848281, nssv2848080, nssv2848216, nssv2848188, nssv2848109, nssv2848326, nssv2848078, nssv2848195, nssv2848016, nssv2847930, nssv2848354, nssv2848274, nssv2848212, nssv2848014, nssv2847978, nssv2848179, nssv2848121, nssv2848081, nssv2848327, nssv2848177, nssv2848305, nssv2848134, nssv2848235, nssv2848073, nssv2848381, nssv2848123, nssv2848270, nssv2848367, nssv2848231, nssv2848296, nssv2848158, nssv2848070, nssv2848213, nssv2848316, nssv2848071, nssv2847950, nssv2848375, nssv2848203, nssv2848039, nssv2847997, nssv2848104, nssv2848376, nssv2848299, nssv2848311, nssv2848015, nssv2847968, nssv2848144, nssv2847977, nssv2847936, nssv2848395, nssv2848300, nssv2848202, nssv2848124, nssv2848240, nssv2847957, nssv2847925, nssv2847923, nssv2848392, nssv2847943, nssv2848181, nssv2847970, nssv2848218, nssv2848173, nssv2847948, nssv2848156, nssv2848189, nssv2848117, nssv2848206, nssv2848331, nssv2848044, nssv2848209, nssv2847976, nssv2848347, nssv2848169, nssv2848041, nssv2848174, nssv2848374, nssv2848164, nssv2847927, nssv2848142, nssv2848334, nssv2848321, nssv2848301, nssv2848110, nssv2848400, nssv2848088, nssv2848100, nssv2848157, nssv2848325, nssv2848102, nssv2848076, nssv2848006, nssv2848031, nssv2848193, nssv2847944, nssv2847922, nssv2848197, nssv2848160, nssv2848145, nssv2847983, nssv2848092, nssv2848287, nssv2848215, nssv2848200, nssv2848229, nssv2848049, nssv2848171, nssv2848048, nssv2848187, nssv2847965, nssv2847984, nssv2848143, nssv2848217, nssv2848163, nssv2847980, nssv2848178, nssv2848082, nssv2848344, nssv2848312, nssv2848324, nssv2848267, nssv2848172, nssv2847947, nssv2848279, nssv2848342, nssv2848269, nssv2847987, nssv2848282, nssv2847966, nssv2848309, nssv2848303, nssv2848012, nssv2848043, nssv2848264, nssv2848115, nssv2848284, nssv2848060, nssv2848329, nssv2848399, nssv2848382, nssv2848090, nssv2848366, nssv2847945, nssv2848058, nssv2848191, nssv2848150, nssv2848095, nssv2848228, nssv2848355, nssv2848304, nssv2848232, nssv2847996, nssv2847994, nssv2848280, nssv2848017, nssv2848010, nssv2847954, nssv2848214, nssv2848183, nssv2847939, nssv2847971, nssv2848207, nssv2848101, nssv2848378, nssv2848223, nssv2848034, nssv2848047, nssv2848091, nssv2848096, nssv2848196, nssv2848051, nssv2847924, nssv2848168, nssv2848077, nssv2847931, nssv2848162, nssv2848128, nssv2848265, nssv2848257, nssv2848137, nssv2848125, nssv2848120, nssv2848003, nssv2848260, nssv2848224, nssv2848135, nssv2848288, nssv2848000, nssv2848011, nssv2848194, nssv2847951, nssv2848180, nssv2848283, nssv2847967, nssv2848298, nssv2848147, nssv2848094, nssv2848237, nssv2848250, nssv2848352, nssv2847988, nssv2848351, nssv2848057, nssv2848008, nssv2848276, nssv2848230, nssv2848225, nssv2848204, nssv2848148, nssv2848339, nssv2848112, nssv2848266, nssv2848245, nssv2848293, nssv2847919, nssv2848313, nssv2848192, nssv2848122, nssv2847985, nssv2848349, nssv2848175, nssv2848037, nssv2848357, nssv2847926, nssv2848317, nssv2848131, nssv2848268, nssv2848337, nssv2847915, nssv2848277, nssv2847973, nssv2848247, nssv2848377, nssv2847962, nssv2848273, nssv2848285, nssv2848226, nssv2848294, nssv2848001, nssv2847938, nssv2848184, nssv2847999, nssv2848387, nssv2848083, nssv2848233, nssv2847921, nssv2848046, nssv2847958, nssv2847946, nssv2848108, nssv2848024, nssv2848398, nssv2848064, nssv2848396, nssv2847975, nssv2848072, nssv2848253, nssv2848093, nssv2848248, nssv2848350, nssv2847929, nssv2848198, nssv2848335, nssv2848319, nssv2848289, nssv2848055, nssv2848097, nssv2848029, nssv2848040, nssv2848338, nssv2848045, nssv2848332, nssv2848308, nssv2847918, nssv2848391, nssv2848356, nssv2848286, nssv2848363, nssv2848369, nssv2848030, nssv2848136, nssv2847935, nssv2848385, nssv2847953, nssv2848053, nssv2847998, nssv2848154, nssv2848386, nssv2848389, nssv2847934, nssv2848032, nssv2848170, nssv2848323, nssv2848190, nssv2848038, nssv2848227, nssv2847960, nssv2848185, nssv2848239, nssv2847991, nssv2847955, nssv2848140, nssv2848314, nssv2848052, nssv2848346, nssv2848336, nssv2848272, nssv2848165, nssv2847961, nssv2848251, nssv2847964, nssv2848236, nssv2848025, nssv2848079, nssv2848020, nssv2847949, nssv2848397, nssv2848013, nssv2848035, nssv2848059, nssv2848027, nssv2848149, nssv2847972, nssv2847937, nssv2848393, nssv2848362, nssv2848005, nssv2848302, nssv2848242, nssv2847959, nssv2848359, nssv2848065, nssv2848390, nssv2848111, nssv2848205, nssv2848340, nssv2848364, nssv2848133, nssv2848098, nssv2848023, nssv2847979, nssv2848069, nssv2848246, nssv2848036, nssv2848278, nssv2848141, nssv2848258, nssv2848241, nssv2847990, nssv2848066 | | Samples | NA21636, NA21317, NA21488, NA18621, NA18947, NA18524, NA12414, NA12843, NA11920, NA18999, NA12751, 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, NA18868, 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, NA19117, NA19223, NA18609, NA19102, NA18873, NA21384, NA19121, NA19129, NA18624, NA21487, NA18612, NA10837, NA18487, NA18577, NA11832, NA21403, NA18998, NA18497, NA19237, 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, NA18869, NA21513, NA19143, NA19109, NA19248, NA21404, NA19173, NA18987, NA12749, NA12830, NA18506, NA21614, NA21486, NA18972, NA18552, NA21303, NA07056, NA19146, NA19148, NA21514, 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, NA21365, 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, NA18484, 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, NA07019, NA19180, NA18874, NA12274, NA06984, NA21454, NA19137, NA21478, NA10855, NA21634, NA21442, NA18975, NA19200, NA21494, NA11993, NA11831, NA10847, NA21599, NA21480, NA12335, NA19210, NA18934, NA10836, NA12343, NA10831, NA19152, NA18956, NA19205, NA19236, NA18516, NA18637, NA12376, NA18503, NA11839, NA10838, NA21485, NA19179, NA18566, NA21441, NA19114, NA11894, NA10830, NA18856, 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, NA18488, NA18511, NA07000, NA18522, NA07034, NA18622, NA18562, NA12776, NA18965 | | Known Genes | NOTCH2 | | Method | Oligo aCGH | | Analysis | ADM2 threshold = 5 | | Platform | Agilent Eichler Human CNP 180K v3.0 | | Comments | | | Reference | Campbell_et_al_2011 | | Pubmed ID | 21397061 | | Accession Number(s) | nsv514912
| | Frequency | | Sample Size | 2366 | | Observed Gain | 488 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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