A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514687



Internal ID15466321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101055199..101057295hg38UCSC Ensembl
Innerchr13:101707551..101709647hg19UCSC Ensembl
Innerchr13:100505552..100507648hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382097
hg192097
hg182097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2792511, nssv2788604, nssv2790685, nssv2792338, nssv2793152, nssv2795910, nssv2793220, nssv2792817, nssv2796816, nssv2796428, nssv2789116, nssv2796525, nssv2797465, nssv2795653, nssv2790614, nssv2794354, nssv2793895, nssv2792159, nssv2789609, nssv2790329, nssv2793096, nssv2795797, nssv2798437, nssv2791299, nssv2795415, nssv2790315, nssv2790260, nssv2789876, nssv2789284, nssv2790027, nssv2792611, nssv2794281, nssv2794217, nssv2797892, nssv2789658, nssv2795768, nssv2792131, nssv2798295, nssv2793029, nssv2795935, nssv2793574, nssv2792908, nssv2797262, nssv2792869, nssv2789828, nssv2793543, nssv2795876, nssv2789991, nssv2796702, nssv2795678, nssv2796857, nssv2795463, nssv2795922, nssv2792601, nssv2798005, nssv2797991, nssv2796879, nssv2794097, nssv2795405, nssv2793677, nssv2788612, nssv2795224, nssv2788715, nssv2796639, nssv2796096, nssv2793812, nssv2789697, nssv2794293, nssv2792115, nssv2793515, nssv2793708, nssv2790275, nssv2798173, nssv2797938, nssv2793923, nssv2791489, nssv2791284, nssv2793495, nssv2797557, nssv2795859, nssv2788828, nssv2788720, nssv2792939, nssv2796636, nssv2792873, nssv2795852, nssv2797471, nssv2797345, nssv2796495, nssv2797913, nssv2793295, nssv2793027, nssv2796903, nssv2794776, nssv2788996, nssv2792144, nssv2795615, nssv2789345, nssv2791252, nssv2788584, nssv2794920, nssv2790934, nssv2797179, nssv2796535, nssv2792417, nssv2794777, nssv2790914, nssv2794107, nssv2796315, nssv2789082, nssv2797701, nssv2790681, nssv2789682, nssv2792830, nssv2791466, nssv2789651, nssv2795158, nssv2796276, nssv2795721, nssv2796824, nssv2796386, nssv2789747, nssv2788845, nssv2794322, nssv2798492, nssv2792708, nssv2795298, nssv2796673, nssv2791453, nssv2794829, nssv2791407, nssv2788995, nssv2795323, nssv2788557, nssv2798358, nssv2793494, nssv2790054, nssv2793508, nssv2793006, nssv2789433, nssv2796729, nssv2789556, nssv2796085, nssv2793346, nssv2791368, nssv2794498, nssv2797598, nssv2796395, nssv2794208, nssv2798162, nssv2793967, nssv2795181, nssv2796101, nssv2793237, nssv2789725, nssv2796898, nssv2796038, nssv2797569, nssv2796997, nssv2796918, nssv2794826, nssv2796202, nssv2790447, nssv2789428, nssv2797558, nssv2790895, nssv2796380, nssv2795535, nssv2791883, nssv2791695, nssv2797373, nssv2792322, nssv2791855, nssv2796572, nssv2792823, nssv2790960, nssv2794257, nssv2789449, nssv2789323, nssv2789625, nssv2790874, nssv2795068, nssv2792906, nssv2795409, nssv2791567, nssv2797779, nssv2793653, nssv2791381, nssv2791337, nssv2791710, nssv2788551, nssv2790476, nssv2791681, nssv2791744, nssv2795709, nssv2789581, nssv2795249, nssv2797925, nssv2797034, nssv2794683, nssv2797577, nssv2792021, nssv2790231, nssv2798348, nssv2794475, nssv2789301, nssv2797519, nssv2793779, nssv2789475, nssv2789547, nssv2794318, nssv2789836, nssv2790035, nssv2791462, nssv2794868, nssv2792636, nssv2795440, nssv2790271, nssv2790157, nssv2798258, nssv2795553, nssv2788498, nssv2789386, nssv2789920, nssv2790407, nssv2795457, nssv2797277, nssv2790850, nssv2795023, nssv2796701, nssv2794660, nssv2790807, nssv2797647, nssv2789979, nssv2797414, nssv2792094, nssv2793113, nssv2788869, nssv2791512, nssv2796224, nssv2789091, nssv2792323, nssv2790878, nssv2789980, nssv2794628, nssv2791847, nssv2796864, nssv2798342, nssv2794326, nssv2792086, nssv2793853, nssv2792266, nssv2790907, nssv2795291, nssv2791054, nssv2788863, nssv2789792, nssv2795572, nssv2797464, nssv2789319, nssv2790557, nssv2789353, nssv2796487, nssv2788862, nssv2788521, nssv2796724, nssv2788750, nssv2795417, nssv2791493, nssv2793909, nssv2798046, nssv2794159, nssv2793296, nssv2791985, nssv2790695, nssv2798319, nssv2797508, nssv2793151, nssv2791782, nssv2793305, nssv2796832, nssv2790328, nssv2790216, nssv2791701, nssv2795235, nssv2791532, nssv2797357, nssv2796413, nssv2790785, nssv2789776, nssv2794909, nssv2797501, nssv2795998, nssv2795786, nssv2796404, nssv2793615, nssv2793872, nssv2789259, nssv2796573, nssv2789068, nssv2790175, nssv2793915, nssv2792557, nssv2796385, nssv2790941, nssv2797305, nssv2795689, nssv2792629, nssv2791166, nssv2790749, nssv2797151, nssv2797330, nssv2795319, nssv2794601, nssv2795823, nssv2793023, nssv2789124, nssv2790551, nssv2788546, nssv2795705, nssv2791544, nssv2790122, nssv2798417, nssv2788497, nssv2795256, nssv2794409, nssv2794472, nssv2788508, nssv2789507, nssv2796143, nssv2796915, nssv2790117, nssv2792880, nssv2790935, nssv2790904, nssv2789811, nssv2790510, nssv2796878, nssv2791140, nssv2794977, nssv2795182, nssv2797204, nssv2789207, nssv2790507, nssv2793325, nssv2789766, nssv2789806, nssv2793353, nssv2794916, nssv2798190, nssv2791555, nssv2795396, nssv2794421, nssv2791595, nssv2791105, nssv2792143, nssv2795654, nssv2789782, nssv2793271, nssv2792862, nssv2792615, nssv2792786, nssv2796585, nssv2794321, nssv2792953, nssv2791685, nssv2795550, nssv2794193, nssv2790333, nssv2797962, nssv2793206, nssv2794218, nssv2789095, nssv2797476, nssv2797645, nssv2794724, nssv2788753, nssv2793357, nssv2793629, nssv2793245, nssv2791708, nssv2794578, nssv2792964, nssv2788583, nssv2793361, nssv2791775, nssv2791400, nssv2797222, nssv2790134, nssv2797689, nssv2795277, nssv2798230, nssv2793418, nssv2791036, nssv2796498, nssv2792002, nssv2791766, nssv2791169, nssv2798387, nssv2790340, nssv2795362, nssv2792850, nssv2789510, nssv2796466, nssv2794034, nssv2793752, nssv2792360, nssv2797802, nssv2792765, nssv2794622, nssv2798036, nssv2790489, nssv2795428, nssv2789746, nssv2791208, nssv2791025, nssv2790457, nssv2795223, nssv2797660, nssv2794136, nssv2793106, nssv2793990, nssv2796132, nssv2793221, nssv2791129, nssv2791816, nssv2791016, nssv2796889, nssv2792396, nssv2795069, nssv2794234, nssv2791752, nssv2791180, nssv2788868, nssv2796325, nssv2798030, nssv2790223, nssv2791795, nssv2790832, nssv2797897, nssv2793134, nssv2790057, nssv2797623, nssv2793044, nssv2792231, nssv2795404, nssv2794552, nssv2795916, nssv2790005, nssv2797073, nssv2792324, nssv2797822, nssv2793647, nssv2798241, nssv2790793, nssv2793924, nssv2792401, nssv2789414, nssv2798090, nssv2795014, nssv2796176, nssv2792134, nssv2792359, nssv2794978, nssv2796620, nssv2796547, nssv2797488, nssv2796891, nssv2795467, nssv2794597, nssv2789958, nssv2790835, nssv2789178, nssv2795722, nssv2793959, nssv2792974, nssv2790617, nssv2792672, nssv2792220, nssv2793608, nssv2789037, nssv2797608, nssv2794499, nssv2793213, nssv2795281, nssv2792060, nssv2792654, nssv2790696
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 GenesNALCN, NALCN-AS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514687
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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