A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514748



Internal ID15466382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73541583..73541759hg38UCSC Ensembl
Innerchr14:74008287..74008463hg19UCSC Ensembl
Innerchr14:73078040..73078216hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2800479, nssv2804266, nssv2806950, nssv2804580, nssv2806849, nssv2807935, nssv2798610, nssv2806090, nssv2801587, nssv2802892, nssv2803985, nssv2807227, nssv2802447, nssv2802859, nssv2799381, nssv2801868, nssv2806746, nssv2803346, nssv2803549, nssv2807480, nssv2808048, nssv2806595, nssv2807329, nssv2807896, nssv2806724, nssv2802505, nssv2807540, nssv2800494, nssv2800300, nssv2804822, nssv2807768, nssv2807313, nssv2799278, nssv2803067, nssv2803068, nssv2803731, nssv2805476, nssv2801352, nssv2804032, nssv2804200, nssv2799248, nssv2799378, nssv2804424, nssv2800226, nssv2801533, nssv2800486, nssv2806726, nssv2807299, nssv2800356, nssv2807461, nssv2805138, nssv2805992, nssv2805036, nssv2807706, nssv2800417, nssv2798711, nssv2807330, nssv2806930, nssv2802194, nssv2799774, nssv2801925, nssv2804030, nssv2800312, nssv2808233, nssv2802450, nssv2800754, nssv2799902, nssv2801190, nssv2805957, nssv2806559, nssv2807321, nssv2805747, nssv2805958, nssv2807056, nssv2799303, nssv2804295, nssv2804803, nssv2807735, nssv2804869, nssv2808094, nssv2801220, nssv2798976, nssv2798991, nssv2803301, nssv2803170, nssv2805996, nssv2808225, nssv2806432, nssv2799425, nssv2803267, nssv2808378, nssv2806722, nssv2808013, nssv2799098, nssv2807680, nssv2805611, nssv2806689, nssv2807215, nssv2802919, nssv2801418, nssv2801974, nssv2802451, nssv2806241, nssv2803250, nssv2802829, nssv2807821, nssv2806727, nssv2799233, nssv2803846, nssv2804095, nssv2804165, nssv2800607, nssv2799374, nssv2798755, nssv2799876, nssv2799770, nssv2801293, nssv2803691, nssv2805448, nssv2806265, nssv2806395, nssv2807890, nssv2799585, nssv2799704, nssv2798684, nssv2805146, nssv2806692, nssv2807171, nssv2801228, nssv2802833, nssv2799975, nssv2802379, nssv2804835, nssv2798744, nssv2806819, nssv2806820, nssv2804991, nssv2803645, nssv2801623, nssv2804374, nssv2804040, nssv2804410, nssv2805977, nssv2807674, nssv2799218, nssv2807916, nssv2802637, nssv2806230, nssv2802710, nssv2800574, nssv2800068, nssv2803722, nssv2806779, nssv2801815, nssv2799265, nssv2801345, nssv2804817, nssv2805938, nssv2801528, nssv2801362, nssv2805693, nssv2798624, nssv2799436, nssv2802146, nssv2806463, nssv2800712, nssv2799584, nssv2800140, nssv2805538, nssv2800244, nssv2801217, nssv2805068, nssv2799501, nssv2802368, nssv2806669, nssv2799090, nssv2801286, nssv2807830, nssv2804788, nssv2806769, nssv2803395, nssv2805262, nssv2801702, nssv2801889, nssv2801576, nssv2806222, nssv2807944, nssv2808028, nssv2800050, nssv2801745, nssv2804031, nssv2800056, nssv2803105, nssv2807000, nssv2807673, nssv2799305, nssv2808306, nssv2798529, nssv2802460, nssv2803508, nssv2806929, nssv2802601, nssv2800548, nssv2806864, nssv2803209, nssv2805969, nssv2807258, nssv2805664, nssv2805858, nssv2804657, nssv2801121, nssv2803345, nssv2802164, nssv2806814, nssv2804804, nssv2800949, nssv2805347, nssv2806503, nssv2806915, nssv2801351, nssv2805238, nssv2805434, nssv2804150, nssv2799195, nssv2802673, nssv2802413, nssv2806831, nssv2800765, nssv2801097, nssv2801494, nssv2808268, nssv2807393, nssv2808037, nssv2802657, nssv2800990, nssv2801921, nssv2804443, nssv2802656, nssv2806850, nssv2805348, nssv2801592, nssv2800605, nssv2805942, nssv2807707, nssv2798975, nssv2799226, nssv2800376, nssv2801734, nssv2805040, nssv2798860, nssv2804990, nssv2806097, nssv2798538, nssv2807891, nssv2806907, nssv2806394, nssv2800942, nssv2803074, nssv2799903, nssv2802672, nssv2803217, nssv2805910, nssv2808022, nssv2802182, nssv2805946, nssv2799533, nssv2800333, nssv2801588, nssv2806352, nssv2799518, nssv2800766, nssv2806398, nssv2801674, nssv2802022, nssv2802234, nssv2803879, nssv2806508, nssv2807605, nssv2801353, nssv2805447, nssv2806304, nssv2808000, nssv2807664, nssv2804387, nssv2804577, nssv2805857, nssv2802802, nssv2806351, nssv2807076, nssv2802530, nssv2804868, nssv2800624, nssv2800654, nssv2803634, nssv2801472, nssv2803565, nssv2807809, nssv2804811, nssv2805562, nssv2800108, nssv2804084, nssv2802962, nssv2798855, nssv2802021, nssv2807598, nssv2808461, nssv2798743, nssv2808063, nssv2798751, nssv2801788, nssv2802768, nssv2804863, nssv2808463, nssv2805746, nssv2798565, nssv2803138, nssv2804740, nssv2807683, nssv2802661, nssv2803221, nssv2807745, nssv2807758, nssv2800366, nssv2807373, nssv2802609, nssv2804487, nssv2807843, nssv2803222, nssv2804906, nssv2798736, nssv2804571, nssv2801856, nssv2800185, nssv2806307, nssv2801523, nssv2805706, nssv2798519, nssv2803437, nssv2808014, nssv2798782, nssv2799302, nssv2799591, nssv2800495, nssv2801584, nssv2802128, nssv2805167, nssv2806085, nssv2798998, nssv2805478, nssv2800500, nssv2806240, nssv2804415, nssv2805139, nssv2802007, nssv2804843, nssv2799260, nssv2801679, nssv2799956, nssv2801827, nssv2808159, nssv2798831, nssv2803316, nssv2803690, nssv2805194, nssv2800631, nssv2803387, nssv2805179, nssv2799832, nssv2799009, nssv2800470, nssv2805905, nssv2805359, nssv2807528, nssv2798927, nssv2805823, nssv2800018, nssv2802067, nssv2798908, nssv2799739, nssv2799150, nssv2803880, nssv2807786, nssv2800433, nssv2802440, nssv2808227, nssv2800122, nssv2808382, nssv2798520, nssv2805212, nssv2798701, nssv2805674, nssv2799464, nssv2807298, nssv2803503, nssv2806112, nssv2804409, nssv2804164, nssv2804023, nssv2804565, nssv2807017, nssv2807175, nssv2803700, nssv2798936, nssv2803949, nssv2806602, nssv2803473, nssv2808056, nssv2807852, nssv2807688, nssv2804386, nssv2799625, nssv2801427, nssv2803658, nssv2806623, nssv2808092, nssv2804281, nssv2802174, nssv2803737, nssv2805183, nssv2800371, nssv2800564, nssv2801614, nssv2805526, nssv2800317, nssv2803836, nssv2798911, nssv2805090, nssv2807124, nssv2799270, nssv2802374, nssv2804562, nssv2801143, nssv2803564, nssv2804696, nssv2801127, nssv2803931, nssv2803639, nssv2805299, nssv2803150, nssv2807499, nssv2799636, nssv2800362, nssv2799479, nssv2807090, nssv2799396, nssv2803876, nssv2804883, nssv2805060, nssv2802678, nssv2805610, nssv2804314, nssv2803450, nssv2799388, nssv2806961, nssv2805782, nssv2799056, nssv2801098, nssv2806167, nssv2799023, nssv2800583, nssv2806142, nssv2806677, nssv2799304, nssv2804086, nssv2808454, nssv2800525, nssv2798783, nssv2800817, nssv2803228, nssv2805705, nssv2799238, nssv2803179, nssv2804259, nssv2801067, nssv2801194, nssv2803180, nssv2803628, nssv2801890, nssv2798525, nssv2808462, nssv2806469, nssv2808081, nssv2801832, nssv2804534, nssv2800922, nssv2801333, nssv2799534, nssv2800606
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 GenesACOT1, HEATR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514748
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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