A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514796



Internal ID15466430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18596865..18664153hg38UCSC Ensembl
Innerchr16:18608187..18675475hg19UCSC Ensembl
Innerchr16:18515688..18582976hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3867289
hg1967289
hg1867289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2820163, nssv2818578, nssv2818549, nssv2820063, nssv2819595, nssv2818523, nssv2819542, nssv2818586, nssv2820065, nssv2820284, nssv2820004, nssv2820106, nssv2818513, nssv2820077, nssv2818507, nssv2820055, nssv2819589, nssv2819560, nssv2820128, nssv2818545, nssv2820205, nssv2820251, nssv2820229, nssv2820105, nssv2818566, nssv2820148, nssv2820172, nssv2818553, nssv2820225, nssv2820114, nssv2820250, nssv2818510, nssv2820152, nssv2819982, nssv2820080, nssv2820090, nssv2820169, nssv2820053, nssv2820166, nssv2818508, nssv2819569, nssv2820045, nssv2820305, nssv2820039, nssv2820178, nssv2819568, nssv2820281, nssv2820270, nssv2818580, nssv2819575, nssv2820134, nssv2820264, nssv2818506, nssv2818532, nssv2818534, nssv2820093, nssv2818561, nssv2820120, nssv2819579, nssv2818497, nssv2820162, nssv2820241, nssv2818555, nssv2820252, nssv2818564, nssv2819573, nssv2819592, nssv2820277, nssv2818505, nssv2820188, nssv2820272, nssv2819585, nssv2820196, nssv2819572, nssv2820051, nssv2820171, nssv2820209, nssv2820269, nssv2820232, nssv2820286, nssv2820290, nssv2820131, nssv2820276, nssv2820156, nssv2820075, nssv2818536, nssv2820002, nssv2820094, nssv2818522, nssv2819998, nssv2820050, nssv2818574, nssv2819599, nssv2819992, nssv2820211, nssv2820275, nssv2820020, nssv2818531, nssv2819583, nssv2820268, nssv2820285, nssv2819974, nssv2820261, nssv2820287, nssv2820027, nssv2820289, nssv2820244, nssv2819996, nssv2818543, nssv2820126, nssv2820233, nssv2819590, nssv2818495, nssv2818511, nssv2820210, nssv2820037, nssv2820042, nssv2820257, nssv2818579, nssv2818570, nssv2820031, nssv2820299, nssv2820137, nssv2818554, nssv2820177, nssv2820213, nssv2819581, nssv2818518, nssv2820048, nssv2820151, nssv2820226, nssv2820140, nssv2820214, nssv2820024, nssv2819989, nssv2820146, nssv2818524, nssv2820118, nssv2820124, nssv2820170, nssv2820267, nssv2820235, nssv2818551, nssv2820127, nssv2820217, nssv2820260, nssv2820147, nssv2820266, nssv2820194, nssv2819570, nssv2819976, nssv2820291, nssv2818542, nssv2819548, nssv2820062, nssv2820144, nssv2820043, nssv2820153, nssv2820061, nssv2820040, nssv2820199, nssv2820295, nssv2819566, nssv2820155, nssv2820191, nssv2820111, nssv2818498, nssv2820160, nssv2819580, nssv2820010, nssv2820130, nssv2820204, nssv2818576, nssv2819552, nssv2820058, nssv2818560, nssv2820246, nssv2820141, nssv2820220, nssv2820271, nssv2819563, nssv2820092, nssv2819558, nssv2819985, nssv2820138, nssv2818567, nssv2819555, nssv2819567, nssv2819562, nssv2818563, nssv2820174, nssv2819979, nssv2820071, nssv2818520, nssv2819983, nssv2819574, nssv2820123, nssv2820181, nssv2819556, nssv2819999, nssv2820018, nssv2818496, nssv2820068, nssv2819596, nssv2820136, nssv2819995, nssv2818539, nssv2820198, nssv2819981, nssv2820249, nssv2820258, nssv2820014, nssv2820221, nssv2820089, nssv2818565, nssv2820000, nssv2820121, nssv2820273, nssv2820100, nssv2820254, nssv2819547, nssv2820280, nssv2818519, nssv2820025, nssv2820200, nssv2818526, nssv2820117, nssv2820201, nssv2820030, nssv2820019, nssv2819978, nssv2820122, nssv2818547, nssv2820076, nssv2820108, nssv2818528, nssv2819972, nssv2819544, nssv2820159, nssv2820008, nssv2820224, nssv2820243, nssv2820274, nssv2820293, nssv2818562, nssv2820116, nssv2818527, nssv2819990, nssv2820102, nssv2820145, nssv2820203, nssv2818550, nssv2820044, nssv2820304, nssv2820302, nssv2819557, nssv2820247, nssv2818515, nssv2820167, nssv2820238, nssv2819553, nssv2819997, nssv2820069, nssv2820150, nssv2818502, nssv2819587, nssv2820154, nssv2818541, nssv2820012, nssv2820228, nssv2819597, nssv2819986, nssv2818559, nssv2818501, nssv2820005, nssv2820078, nssv2820082, nssv2819576, nssv2820017, nssv2820282, nssv2818568, nssv2820186, nssv2820262, nssv2819593, nssv2820074, nssv2820255, nssv2819984, nssv2820021, nssv2820231, nssv2820049, nssv2819994, nssv2820296, nssv2820195, nssv2820279, nssv2819559, nssv2818585, nssv2819993, nssv2818516, nssv2820193, nssv2820187, nssv2820300, nssv2818529, nssv2818556, nssv2820086, nssv2820056, nssv2820072, nssv2820179, nssv2820091, nssv2818582, nssv2820013, nssv2820132, nssv2820230, nssv2819973, nssv2820119, nssv2820067, nssv2820248, nssv2820066, nssv2820222, nssv2818533, nssv2820035, nssv2820301, nssv2820149, nssv2819550, nssv2818573, nssv2818544, nssv2819584, nssv2820303, nssv2818509, nssv2820107, nssv2820085, nssv2819565, nssv2819588, nssv2818583, nssv2820125, nssv2820142, nssv2820218, nssv2820101, nssv2820236, nssv2820158, nssv2820184, nssv2820215, nssv2819543, nssv2820070, nssv2820057, nssv2818575, nssv2820052, nssv2820081, nssv2820278, nssv2818535, nssv2818571, nssv2818558, nssv2820096, nssv2819971, nssv2820046, nssv2818552, nssv2818538, nssv2820087, nssv2820176, nssv2820054, nssv2819977, nssv2820098, nssv2820097, nssv2820192, nssv2818514, nssv2820135, nssv2820161, nssv2820239, nssv2820113, nssv2820297, nssv2818517, nssv2819594, nssv2820073, nssv2818537, nssv2819571, nssv2818500, nssv2818587, nssv2820064, nssv2820208, nssv2820245, nssv2820164, nssv2819551, nssv2819987, nssv2820060, nssv2819561, nssv2820088, nssv2818512, nssv2820084, nssv2818499, nssv2818548, nssv2820112, nssv2820259, nssv2820283, nssv2820237, nssv2818577, nssv2819564, nssv2819591, nssv2820016, nssv2820173, nssv2820033, nssv2820038, nssv2820047, nssv2820015, nssv2820242, nssv2819975, nssv2819991, nssv2820001, nssv2820026, nssv2820182, nssv2820028, nssv2820212, nssv2820003, nssv2820294, nssv2820036, nssv2820059, nssv2820202, nssv2818557, nssv2820099, nssv2819554, nssv2820139, nssv2818521, nssv2820103, nssv2820234, nssv2820168, nssv2820223, nssv2820022, nssv2820110, nssv2818572, nssv2818584, nssv2819549, nssv2820104, nssv2820129, nssv2820216, nssv2820133, nssv2820165, nssv2820298, nssv2819988, nssv2820227, nssv2819600, nssv2818530, nssv2820009, nssv2820189, nssv2820157, nssv2819586, nssv2820029, nssv2820115, nssv2820219, nssv2820034, nssv2819601, nssv2819980, nssv2820007, nssv2820079, nssv2819598, nssv2820006, nssv2820256, nssv2820185, nssv2820265, nssv2820207, nssv2820095, nssv2820180, nssv2820109, nssv2820190, nssv2820240, nssv2818569, nssv2820011, nssv2818525, nssv2818504, nssv2820288, nssv2820023, nssv2820083, nssv2820175, nssv2818503, nssv2818540, nssv2819546, nssv2820206, nssv2820253, nssv2820292, nssv2819578, nssv2820197, nssv2820143, nssv2818581, nssv2820263, nssv2819582, nssv2820032, nssv2820183, nssv2820041, nssv2818546, nssv2819577, nssv2819545
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 GenesABCC6P1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514796
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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