A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514668



Internal ID15466302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:397308..412366hg38UCSC Ensembl
Innerchr12:506474..521532hg19UCSC Ensembl
Innerchr12:376735..391793hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3815059
hg1915059
hg1815059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2797981, nssv2790627, nssv2796672, nssv2790067, nssv2797032, nssv2795112, nssv2789953, nssv2794287, nssv2790385, nssv2795191, nssv2788654, nssv2793662, nssv2792794, nssv2789395, nssv2795381, nssv2793481, nssv2792392, nssv2796419, nssv2791990, nssv2796942, nssv2789137, nssv2797229, nssv2792635, nssv2790495, nssv2797741, nssv2795247, nssv2788795, nssv2792493, nssv2791873, nssv2793573, nssv2794540, nssv2789775, nssv2792510, nssv2789427, nssv2792109, nssv2789796, nssv2792208, nssv2793744, nssv2798058, nssv2796187, nssv2791231, nssv2794380, nssv2792428, nssv2791095, nssv2792944, nssv2793022, nssv2788856, nssv2795149, nssv2789741, nssv2789735, nssv2794443, nssv2794428, nssv2790230, nssv2797413, nssv2792460, nssv2793158, nssv2790499, nssv2789154, nssv2793294, nssv2791517, nssv2795522, nssv2795796, nssv2790156, nssv2794197, nssv2790956, nssv2790421, nssv2794024, nssv2792237, nssv2793475, nssv2793376, nssv2795827, nssv2789978, nssv2789535, nssv2797905, nssv2793493, nssv2797876, nssv2788976, nssv2795659, nssv2794838, nssv2790839, nssv2794671, nssv2792833, nssv2795357, nssv2790109, nssv2797770, nssv2791148, nssv2796111, nssv2793456, nssv2794020, nssv2790628, nssv2793133, nssv2797729, nssv2793614, nssv2795899, nssv2792400, nssv2789791, nssv2790208, nssv2793392, nssv2797652, nssv2793536, nssv2796318, nssv2788655, nssv2792879, nssv2797030, nssv2789115, nssv2795092, nssv2794183, nssv2793821, nssv2792158, nssv2788550, nssv2795804, nssv2789875, nssv2789823, nssv2796248, nssv2788836, nssv2795603, nssv2795688, nssv2792705, nssv2798332, nssv2796624, nssv2793716, nssv2791931, nssv2797292, nssv2790378, nssv2790018, nssv2798017, nssv2790218, nssv2796660, nssv2796665, nssv2793595, nssv2796125, nssv2794292, nssv2792284, nssv2791155, nssv2797884, nssv2794760, nssv2795976, nssv2792367, nssv2791479, nssv2788939, nssv2796607, nssv2791727, nssv2795456, nssv2796342, nssv2792212, nssv2797310, nssv2796960, nssv2797827, nssv2794062, nssv2790737, nssv2789986, nssv2790950, nssv2790680, nssv2797097, nssv2797058, nssv2791187, nssv2796443, nssv2792951, nssv2791179, nssv2792236, nssv2788634, nssv2796783, nssv2794816, nssv2791560, nssv2794147, nssv2793717, nssv2790595, nssv2795336, nssv2793858, nssv2795019, nssv2791642, nssv2789081, nssv2788844, nssv2797737, nssv2794373, nssv2797961, nssv2794252, nssv2789555, nssv2795309, nssv2792564, nssv2797403, nssv2790015, nssv2794146, nssv2789142, nssv2789094, nssv2792130, nssv2793087, nssv2791201, nssv2790740, nssv2797024, nssv2790849, nssv2788925, nssv2793345, nssv2792849, nssv2792195, nssv2790533, nssv2796896, nssv2793150, nssv2792069, nssv2790517, nssv2791015, nssv2790578, nssv2794001, nssv2795785, nssv2795472, nssv2792277, nssv2795529, nssv2791607, nssv2792461, nssv2794114, nssv2790683, nssv2794576, nssv2794145, nssv2798161, nssv2793257, nssv2796590, nssv2788962, nssv2793344, nssv2795858, nssv2795590, nssv2790590, nssv2789143, nssv2789687, nssv2793507, nssv2793417, nssv2791061, nssv2790367, nssv2790248, nssv2788685, nssv2795620, nssv2789647, nssv2789908, nssv2791867, nssv2795511, nssv2796303, nssv2792413, nssv2797011, nssv2792280, nssv2794803, nssv2792701, nssv2789408, nssv2794275, nssv2791989, nssv2789028, nssv2792358, nssv2793128, nssv2797575, nssv2794554, nssv2792382, nssv2794460, nssv2790951, nssv2793780, nssv2793552, nssv2795560, nssv2793637, nssv2792610, nssv2793440, nssv2793086, nssv2788686, nssv2797943, nssv2797912, nssv2795246, nssv2792261, nssv2797589, nssv2792478, nssv2790084, nssv2794127, nssv2797843, nssv2790634, nssv2796153, nssv2797054, nssv2793674, nssv2792835, nssv2788496, nssv2792150, nssv2789719, nssv2796913, nssv2795049, nssv2795471, nssv2792839, nssv2792170, nssv2793793, nssv2790585, nssv2788973, nssv2795528, nssv2795602, nssv2793175, nssv2798240, nssv2790894, nssv2789112, nssv2797255, nssv2795614, nssv2791188, nssv2796763, nssv2792785, nssv2795759, nssv2797693, nssv2796776, nssv2797590, nssv2793724, nssv2797399, nssv2794320, nssv2792582, nssv2790412, nssv2794614, nssv2792381, nssv2796764, nssv2793879, nssv2798007, nssv2789343, nssv2790928, nssv2790792, nssv2796494, nssv2796251, nssv2796298, nssv2794896, nssv2797321, nssv2796966, nssv2792157, nssv2790986, nssv2791159, nssv2796212, nssv2792686, nssv2792596, nssv2797155, nssv2790259, nssv2790264, nssv2791722, nssv2797445, nssv2796361, nssv2796020, nssv2794158, nssv2790332, nssv2797635, nssv2789501, nssv2793270, nssv2791839, nssv2796084, nssv2792568, nssv2798362, nssv2797430, nssv2793016, nssv2797383, nssv2798347, nssv2788576, nssv2795044, nssv2790577, nssv2789067, nssv2790715, nssv2797303, nssv2797985, nssv2791506, nssv2798370, nssv2793588, nssv2792624, nssv2789745, nssv2790079, nssv2797989, nssv2790133, nssv2790000, nssv2791963, nssv2796110, nssv2796323, nssv2790168, nssv2795399, nssv2795960, nssv2789597, nssv2796721, nssv2794600, nssv2798265, nssv2793579, nssv2790974, nssv2790169, nssv2792328, nssv2795063, nssv2791890, nssv2795134, nssv2793304, nssv2797580, nssv2794566, nssv2798257, nssv2795921, nssv2789938, nssv2789206, nssv2790661, nssv2793500, nssv2794521, nssv2794627, nssv2794408, nssv2789460, nssv2797426, nssv2793645, nssv2790940, nssv2792737, nssv2794931, nssv2795164, nssv2792725, nssv2790304, nssv2795645, nssv2792782, nssv2793095, nssv2790450, nssv2794406, nssv2790684, nssv2795091, nssv2789512, nssv2790229, nssv2796897, nssv2798341, nssv2796775, nssv2795485, nssv2792878, nssv2794374, nssv2791971, nssv2795460, nssv2797329, nssv2796275, nssv2793751, nssv2789216, nssv2790664, nssv2795352, nssv2789942, nssv2796937, nssv2789190, nssv2793871, nssv2791207, nssv2790802, nssv2794105, nssv2790906, nssv2793696, nssv2797288, nssv2796668, nssv2797836, nssv2797276, nssv2788752, nssv2791127, nssv2791700, nssv2789850, nssv2788930, nssv2796928, nssv2789052, nssv2793455, nssv2793035, nssv2789724, nssv2790326, nssv2795684, nssv2789185, nssv2794714, nssv2795273, nssv2792834, nssv2798148, nssv2793676, nssv2797578, nssv2794089, nssv2794151, nssv2795386, nssv2795241, nssv2798131, nssv2793646, nssv2791626, nssv2789883, nssv2795966, nssv2796723, nssv2796003, nssv2794606, nssv2794157, nssv2795050, nssv2789453, nssv2791459, nssv2794317, nssv2791134, nssv2794975, nssv2793958, nssv2795228, nssv2789298, nssv2792201, nssv2798451, nssv2790516, nssv2794425, nssv2790821, nssv2797607, nssv2797072, nssv2796403, nssv2793219, nssv2796870, nssv2797199, nssv2796908, nssv2791100
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 GenesCCDC77
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514668
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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