A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514752



Internal ID15466386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78172160..78173904hg38UCSC Ensembl
Innerchr14:78638503..78640247hg19UCSC Ensembl
Innerchr14:77708256..77710000hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381745
hg191745
hg181745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2817676, nssv2814292, nssv2814059, nssv2813193, nssv2815031, nssv2816678, nssv2815955, nssv2810073, nssv2814534, nssv2808996, nssv2812502, nssv2814152, nssv2809283, nssv2808855, nssv2813058, nssv2810975, nssv2816266, nssv2818173, nssv2814316, nssv2817076, nssv2811201, nssv2813800, nssv2815291, nssv2810238, nssv2812736, nssv2813721, nssv2808783, nssv2816083, nssv2811176, nssv2815618, nssv2815407, nssv2813424, nssv2815579, nssv2818151, nssv2809596, nssv2812310, nssv2811758, nssv2817652, nssv2809082, nssv2815195, nssv2812653, nssv2808975, nssv2812615, nssv2815501, nssv2812590, nssv2814343, nssv2814779, nssv2809716, nssv2812690, nssv2817510, nssv2813660, nssv2811490, nssv2814081, nssv2812063, nssv2813966, nssv2810354, nssv2812223, nssv2811258, nssv2811777, nssv2818199, nssv2811828, nssv2809951, nssv2817942, nssv2813354, nssv2810369, nssv2812003, nssv2809064, nssv2810727, nssv2814673, nssv2813695, nssv2818055, nssv2810963, nssv2810096, nssv2814159, nssv2810448, nssv2817888, nssv2817850, nssv2811350, nssv2814695, nssv2812623, nssv2815001, nssv2815721, nssv2810743, nssv2816873, nssv2812574, nssv2816567, nssv2815924, nssv2811842, nssv2810835, nssv2812166, nssv2812311, nssv2811093, nssv2810831, nssv2814507, nssv2810173, nssv2813152, nssv2815843, nssv2810846, nssv2809512, nssv2816024, nssv2809741, nssv2809111, nssv2810233, nssv2816167, nssv2812862, nssv2818275, nssv2815680, nssv2814594, nssv2814097, nssv2816903, nssv2809577, nssv2815393, nssv2817067, nssv2814267, nssv2812726, nssv2815471, nssv2810237, nssv2812108, nssv2809039, nssv2811199, nssv2815180, nssv2817736, nssv2813659, nssv2813539, nssv2810817, nssv2818300, nssv2817243, nssv2810155, nssv2810969, nssv2810013, nssv2812146, nssv2808926, nssv2817177, nssv2811996, nssv2812636, nssv2808643, nssv2816945, nssv2811924, nssv2817546, nssv2814174, nssv2813560, nssv2808746, nssv2813286, nssv2810328, nssv2817926, nssv2816978, nssv2808790, nssv2814335, nssv2809891, nssv2814250, nssv2809820, nssv2811088, nssv2811051, nssv2810895, nssv2817430, nssv2808854, nssv2815959, nssv2813493, nssv2810585, nssv2809534, nssv2812947, nssv2810610, nssv2812955, nssv2817665, nssv2810315, nssv2808782, nssv2811963, nssv2808861, nssv2811856, nssv2810130, nssv2812277, nssv2812188, nssv2811102, nssv2812421, nssv2816801, nssv2813200, nssv2818466, nssv2814259, nssv2816673, nssv2810047, nssv2808661, nssv2814638, nssv2810902, nssv2811732, nssv2810709, nssv2813883, nssv2813796, nssv2818041, nssv2815109, nssv2809294, nssv2816927, nssv2818283, nssv2813206, nssv2812025, nssv2817104, nssv2817457, nssv2811570, nssv2816377, nssv2812869, nssv2812357, nssv2818017, nssv2814187, nssv2815203, nssv2813545, nssv2814841, nssv2816252, nssv2811336, nssv2816034, nssv2810688, nssv2813276, nssv2816528, nssv2809892, nssv2818309, nssv2812144, nssv2817572, nssv2811335, nssv2809240, nssv2815786, nssv2809446, nssv2815573, nssv2810914, nssv2808876, nssv2809649, nssv2810584, nssv2809363, nssv2814371, nssv2812675, nssv2815752, nssv2810035, nssv2808642, nssv2812133, nssv2817386, nssv2817686, nssv2812392, nssv2810728, nssv2815394, nssv2814312, nssv2814491, nssv2808532, nssv2811207, nssv2815038, nssv2815729, nssv2812127, nssv2814639, nssv2811288, nssv2818388, nssv2812575, nssv2817005, nssv2814580, nssv2816453, nssv2811970, nssv2818209, nssv2809879, nssv2814577, nssv2809492, nssv2817159, nssv2814628, nssv2816169, nssv2811691, nssv2810120, nssv2812269, nssv2818235, nssv2813756, nssv2810129, nssv2817037, nssv2813908, nssv2817959, nssv2809636, nssv2812585, nssv2813951, nssv2812197, nssv2815330, nssv2809650, nssv2818095, nssv2813480, nssv2810128, nssv2816697, nssv2813057, nssv2814873, nssv2811879, nssv2811460, nssv2810889, nssv2818146, nssv2814603, nssv2814549, nssv2815121, nssv2809617, nssv2809286, nssv2812622, nssv2811555, nssv2811311, nssv2809150, nssv2812815, nssv2814820, nssv2809120, nssv2809711, nssv2813283, nssv2810726, nssv2813788, nssv2815420, nssv2814763, nssv2813115, nssv2811110, nssv2814941, nssv2808856, nssv2809787, nssv2810335, nssv2808644, nssv2817578, nssv2816955, nssv2818332, nssv2816153, nssv2813882, nssv2815885, nssv2811866, nssv2809767, nssv2816998, nssv2816391, nssv2812477, nssv2811665, nssv2818099, nssv2818051, nssv2814098, nssv2816303, nssv2817273, nssv2809667, nssv2817845, nssv2812522, nssv2816563, nssv2810392, nssv2813820, nssv2808787, nssv2812525, nssv2811261, nssv2812535, nssv2809883, nssv2810234, nssv2813835, nssv2815424, nssv2812984, nssv2810950, nssv2817359, nssv2814091, nssv2812652, nssv2813474, nssv2813772, nssv2811166, nssv2816734, nssv2814538, nssv2808578, nssv2813456, nssv2814633, nssv2812092, nssv2815998, nssv2816824, nssv2813917, nssv2814361, nssv2815142, nssv2813307, nssv2814352, nssv2813745, nssv2815727, nssv2812077, nssv2808944, nssv2817506, nssv2811835, nssv2815008, nssv2811643, nssv2814641, nssv2812173, nssv2809884, nssv2814852, nssv2811408, nssv2811437, nssv2811341, nssv2809418, nssv2810087, nssv2814000, nssv2809874, nssv2809290, nssv2809500, nssv2808701, nssv2809080, nssv2813870, nssv2815889, nssv2811105, nssv2816077, nssv2817657, nssv2818396, nssv2814462, nssv2810320, nssv2817385, nssv2817380, nssv2817734, nssv2809958, nssv2815795, nssv2815947, nssv2810749, nssv2809700, nssv2816741, nssv2813433, nssv2810886, nssv2811918, nssv2818326, nssv2815691, nssv2811404, nssv2813199, nssv2811322, nssv2812757, nssv2809628, nssv2809178, nssv2815545, nssv2810032, nssv2809952, nssv2809012, nssv2810876, nssv2809484, nssv2809357, nssv2818224, nssv2812499, nssv2817426, nssv2811589, nssv2815656, nssv2810246, nssv2816071, nssv2817451, nssv2813138, nssv2811391, nssv2808633, nssv2814260, nssv2812962, nssv2810491, nssv2817436, nssv2808846, nssv2812404, nssv2811092, nssv2815360, nssv2814302, nssv2815913, nssv2809976, nssv2808562, nssv2812847, nssv2815268, nssv2809355, nssv2816314, nssv2815954, nssv2816877, nssv2818367, nssv2810298, nssv2816299, nssv2818138, nssv2808658, nssv2809356, nssv2810184, nssv2809553, nssv2816166, nssv2818369, nssv2818229, nssv2811312, nssv2809068, nssv2818325, nssv2818301, nssv2817758, nssv2814071, nssv2813353, nssv2817112, nssv2813035, nssv2814063, nssv2815870, nssv2811931, nssv2817211, nssv2813317, nssv2817895, nssv2815633, nssv2813043, nssv2815020, nssv2813871, nssv2810999, nssv2810815, nssv2810453, nssv2814061, nssv2814001, nssv2810463, nssv2816486, nssv2815216, nssv2814434, nssv2813230, nssv2817927
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 GenesNRXN3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514752
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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