A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514988



Internal ID15466622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75632582..75690230hg38UCSC Ensembl
Innerchr2:75859708..75917356hg19UCSC Ensembl
Innerchr2:75713216..75770864hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3857649
hg1957649
hg1857649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2884991, nssv2885002, nssv2884851, nssv2885064, nssv2885015, nssv2885041, nssv2886193, nssv2884933, nssv2884885, nssv2884899, nssv2885074, nssv2885013, nssv2884916, nssv2886265, nssv2884940, nssv2886160, nssv2885017, nssv2886235, nssv2885115, nssv2885088, nssv2886297, nssv2886182, nssv2886264, nssv2886281, nssv2885024, nssv2886321, nssv2886159, nssv2884973, nssv2886246, nssv2886167, nssv2885105, nssv2886313, nssv2886234, nssv2884871, nssv2885128, nssv2885065, nssv2886293, nssv2886164, nssv2886240, nssv2884932, nssv2884960, nssv2885081, nssv2884936, nssv2884958, nssv2885102, nssv2884837, nssv2885108, nssv2884883, nssv2886320, nssv2884930, nssv2885063, nssv2885029, nssv2885050, nssv2884943, nssv2886220, nssv2885110, nssv2885119, nssv2886286, nssv2885122, nssv2886262, nssv2884834, nssv2885100, nssv2885078, nssv2886214, nssv2885127, nssv2884959, nssv2886271, nssv2884981, nssv2884920, nssv2884849, nssv2884867, nssv2886194, nssv2886198, nssv2885112, nssv2886298, nssv2886221, nssv2886212, nssv2884949, nssv2884890, nssv2885120, nssv2886183, nssv2884854, nssv2885056, nssv2885125, nssv2884879, nssv2884877, nssv2885006, nssv2884977, nssv2886157, nssv2886199, nssv2885091, nssv2884956, nssv2886251, nssv2885118, nssv2884942, nssv2886195, nssv2885049, nssv2886175, nssv2886241, nssv2886168, nssv2885048, nssv2886146, nssv2884994, nssv2886300, nssv2885086, nssv2886150, nssv2884886, nssv2884846, nssv2885001, nssv2885016, nssv2886309, nssv2884874, nssv2886306, nssv2886325, nssv2885114, nssv2885096, nssv2885030, nssv2885098, nssv2886250, nssv2885026, nssv2885038, nssv2884848, nssv2886155, nssv2886224, nssv2884955, nssv2884898, nssv2885062, nssv2885087, nssv2886303, nssv2884974, nssv2884944, nssv2886170, nssv2885039, nssv2884909, nssv2884947, nssv2884884, nssv2884961, nssv2884968, nssv2884880, nssv2886326, nssv2885037, nssv2886277, nssv2885003, nssv2885134, nssv2884841, nssv2886302, nssv2885045, nssv2886189, nssv2884912, nssv2885035, nssv2886225, nssv2886171, nssv2885085, nssv2886285, nssv2886239, nssv2886201, nssv2884857, nssv2886248, nssv2886184, nssv2884999, nssv2884939, nssv2885036, nssv2886206, nssv2884986, nssv2885093, nssv2886308, nssv2885004, nssv2884855, nssv2884862, nssv2886185, nssv2886275, nssv2884843, nssv2885077, nssv2886237, nssv2885111, nssv2886222, nssv2885014, nssv2884997, nssv2884901, nssv2886266, nssv2884921, nssv2886311, nssv2886270, nssv2886242, nssv2885070, nssv2884863, nssv2884838, nssv2884918, nssv2885132, nssv2884976, nssv2886173, nssv2886158, nssv2886218, nssv2885057, nssv2884852, nssv2884853, nssv2884850, nssv2884881, nssv2884864, nssv2886260, nssv2886152, nssv2884963, nssv2885121, nssv2884983, nssv2886249, nssv2886176, nssv2886154, nssv2885084, nssv2884987, nssv2884926, nssv2886323, nssv2886284, nssv2884934, nssv2885130, nssv2884892, nssv2884998, nssv2884971, nssv2884992, nssv2886200, nssv2885089, nssv2885066, nssv2885072, nssv2884946, nssv2885058, nssv2884900, nssv2886304, nssv2886216, nssv2884989, nssv2886243, nssv2885059, nssv2885060, nssv2886196, nssv2884927, nssv2885083, nssv2885031, nssv2884875, nssv2885061, nssv2886268, nssv2886258, nssv2886305, nssv2886145, nssv2884919, nssv2886314, nssv2885020, nssv2885019, nssv2885135, nssv2884935, nssv2885082, nssv2884969, nssv2886244, nssv2885053, nssv2886276, nssv2884945, nssv2885123, nssv2884951, nssv2884897, nssv2886190, nssv2886283, nssv2886172, nssv2886269, nssv2886257, nssv2885099, nssv2885073, nssv2885052, nssv2886187, nssv2886174, nssv2884993, nssv2884928, nssv2884988, nssv2884873, nssv2886299, nssv2885028, nssv2885068, nssv2886148, nssv2885079, nssv2886209, nssv2884836, nssv2884924, nssv2886316, nssv2884888, nssv2886256, nssv2884903, nssv2886208, nssv2886280, nssv2886290, nssv2885000, nssv2885033, nssv2884966, nssv2884967, nssv2886204, nssv2886169, nssv2884990, nssv2884859, nssv2884970, nssv2884978, nssv2884925, nssv2884905, nssv2885126, nssv2886197, nssv2886267, nssv2884923, nssv2884985, nssv2884954, nssv2886192, nssv2884889, nssv2886229, nssv2884984, nssv2886181, nssv2885136, nssv2884878, nssv2886162, nssv2884979, nssv2884907, nssv2884842, nssv2884882, nssv2886312, nssv2884972, nssv2884996, nssv2884931, nssv2886177, nssv2886227, nssv2884953, nssv2886245, nssv2886324, nssv2885027, nssv2886213, nssv2886317, nssv2885124, nssv2884982, nssv2885095, nssv2886179, nssv2886294, nssv2884917, nssv2884904, nssv2886301, nssv2886296, nssv2886287, nssv2886151, nssv2886292, nssv2884929, nssv2886259, nssv2886149, nssv2886161, nssv2884858, nssv2884964, nssv2884915, nssv2886156, nssv2886307, nssv2886236, nssv2886233, nssv2885103, nssv2885071, nssv2884965, nssv2885022, nssv2885109, nssv2886279, nssv2884845, nssv2886202, nssv2884914, nssv2884870, nssv2886165, nssv2885046, nssv2885012, nssv2885011, nssv2884840, nssv2886238, nssv2884938, nssv2886291, nssv2885090, nssv2884894, nssv2886223, nssv2884869, nssv2885131, nssv2885104, nssv2884948, nssv2886147, nssv2886253, nssv2886289, nssv2884937, nssv2885040, nssv2884887, nssv2885107, nssv2886178, nssv2885023, nssv2885051, nssv2885021, nssv2884861, nssv2886288, nssv2885092, nssv2884906, nssv2885055, nssv2886273, nssv2886263, nssv2884913, nssv2884856, nssv2885133, nssv2886217, nssv2886143, nssv2885094, nssv2885034, nssv2885025, nssv2885047, nssv2885117, nssv2886166, nssv2886211, nssv2886153, nssv2886247, nssv2884860, nssv2886232, nssv2884896, nssv2884950, nssv2884922, nssv2886230, nssv2886188, nssv2886180, nssv2886318, nssv2886226, nssv2885129, nssv2885069, nssv2885097, nssv2885116, nssv2884868, nssv2885010, nssv2885101, nssv2884962, nssv2886274, nssv2886210, nssv2886205, nssv2884902, nssv2884980, nssv2886319, nssv2885044, nssv2886278, nssv2886255, nssv2884872, nssv2884995, nssv2886310, nssv2886144, nssv2884844, nssv2884895, nssv2885032, nssv2884866, nssv2886207, nssv2885067, nssv2885018, nssv2885042, nssv2884952, nssv2886315, nssv2886186, nssv2886254, nssv2886282, nssv2886261, nssv2884910, nssv2885007, nssv2884865, nssv2885008, nssv2886163, nssv2884891, nssv2884835, nssv2886203, nssv2884941, nssv2884839, nssv2885009, nssv2885106, nssv2885054, nssv2884975, nssv2885080, nssv2886295, nssv2884876, nssv2885076, nssv2885075, nssv2884911, nssv2886219, nssv2886142, nssv2885005, nssv2886228, nssv2884893, nssv2885113, nssv2884908, nssv2886231, nssv2884957, nssv2884847, nssv2886322, nssv2886252, nssv2885043, nssv2886272, nssv2886215, nssv2886191
SamplesNA21636, 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 GenesGCFC2, MRPL19
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514988
Frequency
Sample Size2366
Observed Gain0
Observed Loss488
Observed Complex0
Frequencyn/a


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