A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514992



Internal ID15466626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9424482..9425671hg38UCSC Ensembl
Innerchr2:9564611..9565800hg19UCSC Ensembl
Innerchr2:9482062..9483251hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381190
hg191190
hg181190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2888488, nssv2886924, nssv2888361, nssv2886443, nssv2888276, nssv2886480, nssv2888249, nssv2888138, nssv2886450, nssv2888437, nssv2888277, nssv2888169, nssv2888280, nssv2888139, nssv2886505, nssv2886437, nssv2886429, nssv2888465, nssv2888373, nssv2886484, nssv2888381, nssv2888196, nssv2886471, nssv2886434, nssv2888205, nssv2886415, nssv2888259, nssv2886453, nssv2888333, nssv2886928, nssv2888401, nssv2886488, nssv2888351, nssv2888430, nssv2888252, nssv2888180, nssv2888342, nssv2888261, nssv2886942, nssv2888449, nssv2888310, nssv2888415, nssv2886439, nssv2888448, nssv2888162, nssv2888485, nssv2886412, nssv2888410, nssv2888274, nssv2888357, nssv2888228, nssv2888397, nssv2888388, nssv2886465, nssv2886428, nssv2888433, nssv2888330, nssv2888238, nssv2888231, nssv2888463, nssv2888163, nssv2888293, nssv2888344, nssv2888225, nssv2886504, nssv2888385, nssv2888320, nssv2888268, nssv2888216, nssv2888462, nssv2886939, nssv2886455, nssv2888142, nssv2886507, nssv2888386, nssv2888426, nssv2888211, nssv2888227, nssv2888299, nssv2886426, nssv2886422, nssv2888422, nssv2888347, nssv2888406, nssv2886473, nssv2888494, nssv2888453, nssv2888375, nssv2888198, nssv2886510, nssv2888282, nssv2888146, nssv2888423, nssv2886419, nssv2888337, nssv2888253, nssv2886944, nssv2888281, nssv2888345, nssv2888396, nssv2888294, nssv2886446, nssv2886430, nssv2888314, nssv2888438, nssv2888455, nssv2888189, nssv2886468, nssv2888319, nssv2888451, nssv2888305, nssv2888460, nssv2888418, nssv2888175, nssv2888338, nssv2888223, nssv2886433, nssv2888256, nssv2888192, nssv2886485, nssv2888237, nssv2888221, nssv2888260, nssv2888405, nssv2886502, nssv2888454, nssv2888391, nssv2888155, nssv2886440, nssv2888441, nssv2888334, nssv2886493, nssv2888197, nssv2888332, nssv2888158, nssv2888444, nssv2888466, nssv2888492, nssv2888366, nssv2888303, nssv2888343, nssv2888147, nssv2888440, nssv2888484, nssv2888313, nssv2888148, nssv2886923, nssv2886481, nssv2886477, nssv2888140, nssv2886475, nssv2888137, nssv2888194, nssv2888135, nssv2888356, nssv2888432, nssv2886503, nssv2886494, nssv2888193, nssv2888164, nssv2888363, nssv2888407, nssv2888489, nssv2888346, nssv2888160, nssv2888150, nssv2888473, nssv2888339, nssv2888239, nssv2886414, nssv2888372, nssv2888358, nssv2886448, nssv2888486, nssv2888318, nssv2888470, nssv2888457, nssv2888292, nssv2886940, nssv2888383, nssv2888166, nssv2888264, nssv2886509, nssv2888404, nssv2888178, nssv2888181, nssv2888234, nssv2888199, nssv2888450, nssv2888173, nssv2886938, nssv2888203, nssv2888235, nssv2888452, nssv2886489, nssv2888208, nssv2888149, nssv2886425, nssv2888416, nssv2888174, nssv2888317, nssv2888250, nssv2886472, nssv2888411, nssv2888382, nssv2888201, nssv2888389, nssv2888394, nssv2888297, nssv2886416, nssv2886464, nssv2888335, nssv2888224, nssv2888270, nssv2888419, nssv2888161, nssv2888395, nssv2888145, nssv2888341, nssv2888445, nssv2888286, nssv2888348, nssv2888242, nssv2888218, nssv2888141, nssv2888461, nssv2888222, nssv2888179, nssv2888439, nssv2888434, nssv2886459, nssv2888380, nssv2886413, nssv2888278, nssv2888479, nssv2888480, nssv2888134, nssv2888417, nssv2886943, nssv2888402, nssv2886417, nssv2888244, nssv2888176, nssv2888420, nssv2888304, nssv2886927, nssv2888326, nssv2886423, nssv2888370, nssv2886462, nssv2888213, nssv2886929, nssv2888232, nssv2888254, nssv2886922, nssv2888184, nssv2888295, nssv2888246, nssv2888379, nssv2886490, nssv2888321, nssv2888436, nssv2888400, nssv2888352, nssv2888296, nssv2888157, nssv2886926, nssv2886461, nssv2888413, nssv2888424, nssv2888207, nssv2888273, nssv2888477, nssv2888262, nssv2886454, nssv2886496, nssv2886451, nssv2886935, nssv2886467, nssv2888481, nssv2888287, nssv2888324, nssv2888393, nssv2886479, nssv2888429, nssv2888132, nssv2888368, nssv2888191, nssv2888353, nssv2888266, nssv2888195, nssv2886483, nssv2888458, nssv2888359, nssv2888272, nssv2886497, nssv2888467, nssv2888170, nssv2888168, nssv2886470, nssv2886500, nssv2888290, nssv2888469, nssv2888215, nssv2888230, nssv2888172, nssv2888186, nssv2886438, nssv2888398, nssv2888311, nssv2888220, nssv2888288, nssv2888143, nssv2886925, nssv2888365, nssv2886930, nssv2888182, nssv2888456, nssv2886474, nssv2886463, nssv2886452, nssv2888328, nssv2886486, nssv2888167, nssv2888271, nssv2888408, nssv2888217, nssv2886458, nssv2888435, nssv2886492, nssv2888378, nssv2888364, nssv2888284, nssv2886506, nssv2888327, nssv2888283, nssv2886495, nssv2888307, nssv2886476, nssv2888340, nssv2886427, nssv2888204, nssv2888226, nssv2886933, nssv2886457, nssv2888384, nssv2888367, nssv2888309, nssv2888409, nssv2886410, nssv2888188, nssv2886421, nssv2888255, nssv2888229, nssv2888447, nssv2886478, nssv2888471, nssv2888474, nssv2886501, nssv2888336, nssv2886431, nssv2888243, nssv2886498, nssv2886941, nssv2888306, nssv2888302, nssv2886411, nssv2888487, nssv2888478, nssv2888263, nssv2888154, nssv2888248, nssv2888291, nssv2888279, nssv2888151, nssv2886482, nssv2886932, nssv2886491, nssv2888414, nssv2888482, nssv2888308, nssv2888185, nssv2888187, nssv2886441, nssv2886447, nssv2888258, nssv2888442, nssv2888369, nssv2888156, nssv2888483, nssv2888371, nssv2888214, nssv2888233, nssv2886469, nssv2886460, nssv2888289, nssv2886409, nssv2888374, nssv2888399, nssv2888387, nssv2888136, nssv2888360, nssv2888240, nssv2888177, nssv2888425, nssv2888377, nssv2888285, nssv2888200, nssv2888301, nssv2888210, nssv2888472, nssv2888376, nssv2886937, nssv2886936, nssv2886487, nssv2886449, nssv2888315, nssv2886456, nssv2888476, nssv2888275, nssv2886931, nssv2888421, nssv2888329, nssv2888206, nssv2888212, nssv2888247, nssv2888159, nssv2888443, nssv2888403, nssv2888133, nssv2888257, nssv2888245, nssv2888269, nssv2888144, nssv2888298, nssv2888331, nssv2886466, nssv2888312, nssv2888323, nssv2888475, nssv2886435, nssv2888392, nssv2888316, nssv2888325, nssv2888446, nssv2888152, nssv2888349, nssv2888350, nssv2888267, nssv2888490, nssv2888355, nssv2888183, nssv2888493, nssv2888428, nssv2888322, nssv2888171, nssv2888265, nssv2888153, nssv2888241, nssv2886436, nssv2886445, nssv2888236, nssv2886499, nssv2888354, nssv2888202, nssv2886442, nssv2886934, nssv2888431, nssv2888464, nssv2888209, nssv2888251, nssv2886418, nssv2888165, nssv2888190, nssv2886424, nssv2888491, nssv2888390, nssv2886432, nssv2888468, nssv2888412, nssv2886444, nssv2888362, nssv2886508, nssv2888459, nssv2888219, nssv2888427, nssv2888300, nssv2886420
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 GenesCPSF3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514992
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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