A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514851



Internal ID15466485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47538871..47585903hg38UCSC Ensembl
Innerchr17:45616237..45663269hg19UCSC Ensembl
Innerchr17:42971236..43018268hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3847033
hg1947033
hg1847033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2833401, nssv2833481, nssv2833387, nssv2833337, nssv2833328, nssv2833323, nssv2833368, nssv2833297, nssv2834264, nssv2834288, nssv2834222, nssv2833520, nssv2833423, nssv2834150, nssv2833388, nssv2834183, nssv2834126, nssv2834231, nssv2834282, nssv2833305, nssv2833334, nssv2834110, nssv2833429, nssv2833427, nssv2833399, nssv2834205, nssv2832917, nssv2833379, nssv2834197, nssv2832885, nssv2834159, nssv2834240, nssv2833431, nssv2833363, nssv2834211, nssv2833447, nssv2833491, nssv2832855, nssv2833479, nssv2832899, nssv2832900, nssv2832905, nssv2833295, nssv2833362, nssv2834260, nssv2834185, nssv2832867, nssv2833513, nssv2834191, nssv2833339, nssv2834156, nssv2833455, nssv2833496, nssv2834186, nssv2834163, nssv2832915, nssv2832920, nssv2833350, nssv2833441, nssv2834274, nssv2834206, nssv2834239, nssv2834266, nssv2834170, nssv2833292, nssv2834151, nssv2834295, nssv2834187, nssv2833319, nssv2834168, nssv2832919, nssv2833506, nssv2834284, nssv2834136, nssv2832884, nssv2833341, nssv2834280, nssv2834147, nssv2834246, nssv2833402, nssv2833512, nssv2834215, nssv2833344, nssv2833453, nssv2832879, nssv2834219, nssv2833406, nssv2833484, nssv2834249, nssv2834164, nssv2833477, nssv2833456, nssv2832860, nssv2832895, nssv2833420, nssv2833311, nssv2833412, nssv2833335, nssv2834287, nssv2834135, nssv2833511, nssv2834176, nssv2833333, nssv2833316, nssv2833384, nssv2833361, nssv2833301, nssv2832881, nssv2834165, nssv2833457, nssv2833492, nssv2834245, nssv2834121, nssv2834161, nssv2834269, nssv2832882, nssv2832921, nssv2833444, nssv2833489, nssv2833498, nssv2833422, nssv2834296, nssv2833321, nssv2834242, nssv2832901, nssv2833435, nssv2833343, nssv2834207, nssv2833480, nssv2832859, nssv2834289, nssv2833452, nssv2832913, nssv2833487, nssv2833462, nssv2834237, nssv2834166, nssv2834138, nssv2833347, nssv2834124, nssv2833404, nssv2834117, nssv2833415, nssv2833354, nssv2834267, nssv2833454, nssv2833308, nssv2834270, nssv2833464, nssv2834157, nssv2833336, nssv2833442, nssv2833325, nssv2833296, nssv2833306, nssv2833486, nssv2833446, nssv2834291, nssv2832865, nssv2833367, nssv2834241, nssv2833408, nssv2832876, nssv2834184, nssv2834171, nssv2833293, nssv2832916, nssv2834199, nssv2834177, nssv2832866, nssv2834119, nssv2833314, nssv2833312, nssv2834162, nssv2834204, nssv2834250, nssv2834146, nssv2834277, nssv2834134, nssv2833503, nssv2833294, nssv2834212, nssv2833471, nssv2832886, nssv2834232, nssv2834113, nssv2833450, nssv2832875, nssv2834292, nssv2833440, nssv2833458, nssv2833519, nssv2834194, nssv2834149, nssv2833438, nssv2833390, nssv2832861, nssv2834112, nssv2834193, nssv2833327, nssv2833338, nssv2833405, nssv2834233, nssv2834172, nssv2832868, nssv2834248, nssv2834125, nssv2833332, nssv2834283, nssv2834195, nssv2833355, nssv2833448, nssv2833443, nssv2833497, nssv2833509, nssv2833307, nssv2834257, nssv2833378, nssv2834293, nssv2832898, nssv2834235, nssv2833499, nssv2833315, nssv2833437, nssv2832922, nssv2833478, nssv2833326, nssv2834118, nssv2834132, nssv2833501, nssv2833304, nssv2834262, nssv2834129, nssv2834130, nssv2833396, nssv2834143, nssv2833331, nssv2832877, nssv2834115, nssv2833421, nssv2833417, nssv2834290, nssv2834210, nssv2834169, nssv2833418, nssv2834276, nssv2833364, nssv2834256, nssv2834217, nssv2834188, nssv2833330, nssv2833434, nssv2832870, nssv2833358, nssv2833299, nssv2833385, nssv2834192, nssv2832888, nssv2833515, nssv2833400, nssv2832862, nssv2833419, nssv2834258, nssv2834155, nssv2834140, nssv2833380, nssv2833302, nssv2834227, nssv2834123, nssv2833463, nssv2833300, nssv2833340, nssv2834137, nssv2834225, nssv2834120, nssv2833352, nssv2833353, nssv2833470, nssv2833303, nssv2834265, nssv2832869, nssv2833365, nssv2834158, nssv2834271, nssv2834203, nssv2833476, nssv2833409, nssv2833322, nssv2833393, nssv2834175, nssv2832883, nssv2833395, nssv2833309, nssv2833439, nssv2832902, nssv2833391, nssv2834141, nssv2833507, nssv2832918, nssv2834109, nssv2832893, nssv2833521, nssv2834273, nssv2832872, nssv2833469, nssv2833413, nssv2834221, nssv2833375, nssv2832907, nssv2833382, nssv2833298, nssv2832889, nssv2834189, nssv2832894, nssv2833451, nssv2833449, nssv2833494, nssv2833360, nssv2833356, nssv2832912, nssv2834209, nssv2834220, nssv2833414, nssv2833473, nssv2834278, nssv2834139, nssv2833392, nssv2832890, nssv2833425, nssv2833517, nssv2834294, nssv2833472, nssv2832856, nssv2834144, nssv2832914, nssv2833522, nssv2834234, nssv2833329, nssv2834224, nssv2832909, nssv2833324, nssv2833500, nssv2834154, nssv2834122, nssv2832906, nssv2833369, nssv2834236, nssv2833377, nssv2832897, nssv2833320, nssv2833475, nssv2833411, nssv2834243, nssv2833374, nssv2832874, nssv2832903, nssv2833345, nssv2834259, nssv2832908, nssv2832887, nssv2833318, nssv2834230, nssv2833490, nssv2833508, nssv2834174, nssv2834279, nssv2834181, nssv2833461, nssv2833370, nssv2834213, nssv2833426, nssv2834190, nssv2832904, nssv2834153, nssv2833436, nssv2832896, nssv2834253, nssv2832857, nssv2833397, nssv2834272, nssv2834167, nssv2833359, nssv2834133, nssv2833430, nssv2834255, nssv2833510, nssv2833518, nssv2833371, nssv2834148, nssv2833483, nssv2834252, nssv2834145, nssv2833394, nssv2833342, nssv2833403, nssv2833310, nssv2834111, nssv2833386, nssv2834254, nssv2832891, nssv2832878, nssv2833488, nssv2833389, nssv2833372, nssv2833428, nssv2834281, nssv2833410, nssv2833460, nssv2833504, nssv2834263, nssv2833373, nssv2833465, nssv2833459, nssv2833468, nssv2833495, nssv2833474, nssv2833424, nssv2833467, nssv2834261, nssv2834286, nssv2833407, nssv2833317, nssv2834244, nssv2833493, nssv2834268, nssv2834142, nssv2834116, nssv2834196, nssv2834179, nssv2832871, nssv2833482, nssv2834202, nssv2834200, nssv2832911, nssv2833485, nssv2834226, nssv2833432, nssv2834216, nssv2834238, nssv2834201, nssv2834152, nssv2834208, nssv2833514, nssv2834180, nssv2834127, nssv2833466, nssv2832880, nssv2832910, nssv2833357, nssv2833366, nssv2833349, nssv2832873, nssv2834218, nssv2834198, nssv2834228, nssv2833376, nssv2834108, nssv2833383, nssv2834178, nssv2832863, nssv2833381, nssv2834229, nssv2834285, nssv2833433, nssv2834160, nssv2834131, nssv2833502, nssv2834251, nssv2834247, nssv2833505, nssv2832858, nssv2833313, nssv2834182, nssv2832892, nssv2833416, nssv2833398, nssv2832864, nssv2833516, nssv2833348, nssv2833346, nssv2834114, nssv2834223, nssv2834214, nssv2834128, nssv2833445, nssv2834275, nssv2834173, nssv2833351
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 GenesNPEPPS
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514851
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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