A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514914



Internal ID15466548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161443602..161481554hg38UCSC Ensembl
Innerchr1:161413392..161451344hg19UCSC Ensembl
Innerchr1:159680016..159717968hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3837953
hg1937953
hg1837953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2852207, nssv2850069, nssv2850212, nssv2850248, nssv2850164, nssv2850216, nssv2850272, nssv2850289, nssv2850074, nssv2848850, nssv2850194, nssv2850131, nssv2852224, nssv2850258, nssv2850035, nssv2848861, nssv2850125, nssv2850180, nssv2852231, nssv2850224, nssv2848840, nssv2850001, nssv2851068, nssv2852199, nssv2850198, nssv2852205, nssv2850009, nssv2848862, nssv2848817, nssv2850254, nssv2852189, nssv2850297, nssv2848798, nssv2851076, nssv2850058, nssv2850124, nssv2850214, nssv2848808, nssv2852190, nssv2850037, nssv2850020, nssv2850285, nssv2850229, nssv2848839, nssv2850178, nssv2850271, nssv2850107, nssv2850130, nssv2850094, nssv2850162, nssv2850148, nssv2850197, nssv2852187, nssv2848796, nssv2850085, nssv2850056, nssv2848800, nssv2850095, nssv2848810, nssv2850208, nssv2850010, nssv2850055, nssv2850240, nssv2848797, nssv2848854, nssv2851075, nssv2850232, nssv2850030, nssv2850013, nssv2850089, nssv2850270, nssv2851070, nssv2850053, nssv2850276, nssv2850156, nssv2850146, nssv2850269, nssv2848807, nssv2850262, nssv2850242, nssv2848843, nssv2849987, nssv2850288, nssv2851071, nssv2850222, nssv2852203, nssv2850231, nssv2850225, nssv2850167, nssv2851064, nssv2851058, nssv2850023, nssv2852202, nssv2850133, nssv2848794, nssv2850182, nssv2848815, nssv2850154, nssv2849988, nssv2850079, nssv2850303, nssv2850188, nssv2850203, nssv2850017, nssv2850172, nssv2850191, nssv2850004, nssv2848831, nssv2850243, nssv2850168, nssv2850008, nssv2850157, nssv2850083, nssv2849979, nssv2852212, nssv2851061, nssv2851049, nssv2851066, nssv2850189, nssv2850177, nssv2852229, nssv2852222, nssv2850302, nssv2850279, nssv2850052, nssv2849986, nssv2850246, nssv2850139, nssv2850116, nssv2850196, nssv2850137, nssv2850104, nssv2850253, nssv2850239, nssv2850135, nssv2850210, nssv2850027, nssv2850073, nssv2850202, nssv2849982, nssv2848841, nssv2850099, nssv2850034, nssv2849996, nssv2850265, nssv2848832, nssv2852200, nssv2850205, nssv2850114, nssv2850304, nssv2850251, nssv2850021, nssv2852206, nssv2850213, nssv2850071, nssv2850152, nssv2850117, nssv2852191, nssv2850007, nssv2850041, nssv2848806, nssv2852233, nssv2850092, nssv2850252, nssv2851077, nssv2848845, nssv2850145, nssv2850038, nssv2850011, nssv2850260, nssv2850286, nssv2852218, nssv2849980, nssv2850006, nssv2852198, nssv2850059, nssv2848848, nssv2850088, nssv2848844, nssv2852204, nssv2850249, nssv2850149, nssv2850218, nssv2852210, nssv2852217, nssv2850068, nssv2852226, nssv2852209, nssv2851050, nssv2850158, nssv2850147, nssv2850244, nssv2848827, nssv2850047, nssv2850284, nssv2850097, nssv2850026, nssv2850150, nssv2850184, nssv2850169, nssv2850173, nssv2848803, nssv2850123, nssv2850065, nssv2851055, nssv2848858, nssv2850256, nssv2850257, nssv2850174, nssv2850138, nssv2852223, nssv2850048, nssv2852194, nssv2851046, nssv2850046, nssv2850160, nssv2850070, nssv2850090, nssv2852201, nssv2850283, nssv2850230, nssv2849983, nssv2851048, nssv2850190, nssv2850049, nssv2849999, nssv2850299, nssv2850175, nssv2848804, nssv2850228, nssv2848842, nssv2849991, nssv2852188, nssv2850044, nssv2850032, nssv2850186, nssv2850121, nssv2850025, nssv2851054, nssv2848821, nssv2850045, nssv2849973, nssv2850305, nssv2850060, nssv2850165, nssv2850101, nssv2850105, nssv2849985, nssv2850153, nssv2850113, nssv2848823, nssv2850199, nssv2852185, nssv2848820, nssv2848818, nssv2850080, nssv2849974, nssv2848826, nssv2850012, nssv2852228, nssv2850179, nssv2852213, nssv2848860, nssv2848802, nssv2852227, nssv2850063, nssv2850111, nssv2850043, nssv2850192, nssv2849977, nssv2850185, nssv2850235, nssv2849971, nssv2850141, nssv2850136, nssv2851056, nssv2850300, nssv2850170, nssv2850064, nssv2850087, nssv2850015, nssv2850112, nssv2850031, nssv2850233, nssv2848834, nssv2852230, nssv2850109, nssv2851060, nssv2848799, nssv2850267, nssv2850261, nssv2852195, nssv2849995, nssv2852192, nssv2851073, nssv2850118, nssv2850096, nssv2850022, nssv2852186, nssv2851044, nssv2849993, nssv2848812, nssv2848811, nssv2848833, nssv2852211, nssv2852193, nssv2850195, nssv2848828, nssv2848852, nssv2848846, nssv2851057, nssv2851045, nssv2850134, nssv2850215, nssv2848855, nssv2850292, nssv2850166, nssv2850161, nssv2848819, nssv2851069, nssv2850219, nssv2849972, nssv2850220, nssv2850106, nssv2850187, nssv2848836, nssv2850204, nssv2848863, nssv2850282, nssv2850237, nssv2850206, nssv2850082, nssv2850273, nssv2851052, nssv2850226, nssv2849976, nssv2850120, nssv2850159, nssv2850259, nssv2852219, nssv2850236, nssv2850211, nssv2850057, nssv2848809, nssv2850075, nssv2852215, nssv2848856, nssv2850295, nssv2851053, nssv2849992, nssv2850293, nssv2850093, nssv2850036, nssv2848851, nssv2850278, nssv2848825, nssv2850291, nssv2850183, nssv2850143, nssv2848857, nssv2850003, nssv2848801, nssv2851059, nssv2850000, nssv2848859, nssv2850029, nssv2850132, nssv2850002, nssv2848835, nssv2850018, nssv2850122, nssv2850078, nssv2850227, nssv2850201, nssv2850016, nssv2850290, nssv2850108, nssv2852220, nssv2850268, nssv2850241, nssv2849994, nssv2851062, nssv2850084, nssv2852232, nssv2849998, nssv2851065, nssv2851074, nssv2849989, nssv2850250, nssv2852216, nssv2850223, nssv2852208, nssv2848830, nssv2850275, nssv2850264, nssv2850217, nssv2850281, nssv2850140, nssv2850234, nssv2851051, nssv2848837, nssv2850033, nssv2850110, nssv2850102, nssv2850028, nssv2850287, nssv2850126, nssv2848849, nssv2850255, nssv2850144, nssv2850100, nssv2850014, nssv2850181, nssv2850115, nssv2850086, nssv2850151, nssv2851063, nssv2850067, nssv2850176, nssv2848838, nssv2850209, nssv2850061, nssv2848847, nssv2852225, nssv2850280, nssv2852221, nssv2850072, nssv2850294, nssv2850245, nssv2850155, nssv2852214, nssv2848813, nssv2848795, nssv2850263, nssv2852197, nssv2851072, nssv2849978, nssv2850296, nssv2851067, nssv2850098, nssv2850128, nssv2850129, nssv2850200, nssv2850051, nssv2850019, nssv2848816, nssv2850163, nssv2850221, nssv2850301, nssv2850103, nssv2848829, nssv2851047, nssv2852196, nssv2850277, nssv2850040, nssv2850119, nssv2850142, nssv2850066, nssv2850042, nssv2850081, nssv2850005, nssv2849997, nssv2850247, nssv2850062, nssv2850207, nssv2850171, nssv2850193, nssv2849975, nssv2850298, nssv2850091, nssv2850024, nssv2850274, nssv2848853, nssv2850127, nssv2849984, nssv2850076, nssv2850266, nssv2849990, nssv2848814, nssv2850077, nssv2850054, nssv2850238, nssv2850039, nssv2849981, nssv2848822, nssv2850050, nssv2848824, nssv2848805
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 Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514914
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer