A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514645



Internal ID15466279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10435580..10442133hg38UCSC Ensembl
Innerchr12:10588179..10594732hg19UCSC Ensembl
Innerchr12:10479446..10485999hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386554
hg196554
hg186554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2788195, nssv2788275, nssv2783985, nssv2784178, nssv2779164, nssv2785385, nssv2786412, nssv2784160, nssv2782597, nssv2788466, nssv2787986, nssv2780816, nssv2781863, nssv2780906, nssv2783881, nssv2784138, nssv2785634, nssv2788116, nssv2787698, nssv2786672, nssv2778663, nssv2781807, nssv2781893, nssv2784635, nssv2779838, nssv2780469, nssv2781549, nssv2780643, nssv2784295, nssv2778675, nssv2781636, nssv2783473, nssv2787090, nssv2782723, nssv2780394, nssv2780455, nssv2785357, nssv2788188, nssv2779664, nssv2779856, nssv2781025, nssv2779374, nssv2780090, nssv2778893, nssv2784344, nssv2784595, nssv2781540, nssv2786050, nssv2784265, nssv2784612, nssv2782882, nssv2781465, nssv2782347, nssv2781159, nssv2781539, nssv2785358, nssv2779850, nssv2780117, nssv2783907, nssv2783213, nssv2783943, nssv2787224, nssv2786601, nssv2786726, nssv2787009, nssv2780571, nssv2783147, nssv2787626, nssv2782986, nssv2779077, nssv2783615, nssv2788473, nssv2781583, nssv2781847, nssv2783211, nssv2786239, nssv2783580, nssv2785349, nssv2787487, nssv2785275, nssv2785787, nssv2788231, nssv2784296, nssv2780856, nssv2782587, nssv2786533, nssv2779401, nssv2783309, nssv2778580, nssv2779782, nssv2785330, nssv2780785, nssv2784651, nssv2780489, nssv2778796, nssv2781105, nssv2782985, nssv2787277, nssv2778651, nssv2784590, nssv2782922, nssv2788074, nssv2787005, nssv2787082, nssv2782476, nssv2778894, nssv2784971, nssv2787972, nssv2779358, nssv2781014, nssv2783545, nssv2779178, nssv2787175, nssv2784107, nssv2787318, nssv2780624, nssv2779364, nssv2780183, nssv2781892, nssv2782428, nssv2784862, nssv2781494, nssv2781074, nssv2787777, nssv2784777, nssv2781279, nssv2785192, nssv2784664, nssv2779363, nssv2779862, nssv2784879, nssv2786158, nssv2778772, nssv2785444, nssv2782844, nssv2784425, nssv2783854, nssv2781084, nssv2788318, nssv2783116, nssv2783252, nssv2778960, nssv2780709, nssv2778499, nssv2784057, nssv2787976, nssv2784918, nssv2780529, nssv2783518, nssv2788343, nssv2779097, nssv2785534, nssv2788325, nssv2779090, nssv2782463, nssv2787845, nssv2781648, nssv2784972, nssv2788254, nssv2781787, nssv2786241, nssv2786266, nssv2784677, nssv2784689, nssv2786113, nssv2786627, nssv2787199, nssv2783394, nssv2785960, nssv2781301, nssv2782013, nssv2785503, nssv2780574, nssv2787081, nssv2781720, nssv2781862, nssv2779575, nssv2786357, nssv2786306, nssv2786437, nssv2786626, nssv2785169, nssv2779970, nssv2783374, nssv2783817, nssv2783633, nssv2783846, nssv2788494, nssv2781091, nssv2787961, nssv2784613, nssv2785236, nssv2787601, nssv2787843, nssv2788230, nssv2778644, nssv2780808, nssv2784149, nssv2782829, nssv2787556, nssv2786639, nssv2780196, nssv2779658, nssv2782732, nssv2786403, nssv2785708, nssv2781229, nssv2781716, nssv2780372, nssv2785816, nssv2787260, nssv2782527, nssv2784205, nssv2779299, nssv2780897, nssv2781028, nssv2787547, nssv2784288, nssv2788044, nssv2788189, nssv2785180, nssv2780351, nssv2778701, nssv2785223, nssv2785875, nssv2784297, nssv2786760, nssv2787159, nssv2780045, nssv2785610, nssv2786901, nssv2780583, nssv2783223, nssv2784803, nssv2784912, nssv2780926, nssv2782164, nssv2782845, nssv2779540, nssv2787717, nssv2778679, nssv2782894, nssv2784386, nssv2787174, nssv2783471, nssv2787140, nssv2782139, nssv2786972, nssv2787089, nssv2780248, nssv2779971, nssv2780882, nssv2780932, nssv2783191, nssv2779804, nssv2780857, nssv2783443, nssv2788491, nssv2781398, nssv2784473, nssv2783686, nssv2787555, nssv2781849, nssv2783281, nssv2784596, nssv2779337, nssv2782192, nssv2786495, nssv2778765, nssv2782475, nssv2781858, nssv2788364, nssv2785216, nssv2778658, nssv2782571, nssv2784397, nssv2788198, nssv2778847, nssv2781318, nssv2788375, nssv2786420, nssv2786593, nssv2780530, nssv2781138, nssv2782313, nssv2779367, nssv2779686, nssv2781574, nssv2783956, nssv2786186, nssv2781289, nssv2785781, nssv2778525, nssv2784633, nssv2787844, nssv2779019, nssv2778773, nssv2781273, nssv2785293, nssv2779213, nssv2780557, nssv2778990, nssv2785130, nssv2785145, nssv2778786, nssv2784619, nssv2780742, nssv2780181, nssv2782612, nssv2778935, nssv2783546, nssv2784037, nssv2784184, nssv2787538, nssv2778797, nssv2780329, nssv2783823, nssv2784589, nssv2788243, nssv2788349, nssv2782887, nssv2785337, nssv2783148, nssv2783470, nssv2781855, nssv2786819, nssv2783912, nssv2786781, nssv2782510, nssv2783059, nssv2787728, nssv2786203, nssv2786446, nssv2787018, nssv2788218, nssv2781625, nssv2781656, nssv2781711, nssv2785276, nssv2781643, nssv2783929, nssv2780309, nssv2782280, nssv2782694, nssv2785428, nssv2780560, nssv2785651, nssv2788274, nssv2781977, nssv2783280, nssv2779094, nssv2787358, nssv2779295, nssv2784159, nssv2787566, nssv2785870, nssv2787557, nssv2782244, nssv2784383, nssv2781916, nssv2783753, nssv2780000, nssv2786431, nssv2785314, nssv2779348, nssv2786534, nssv2780404, nssv2780345, nssv2783140, nssv2779727, nssv2783472, nssv2787888, nssv2781511, nssv2779556, nssv2785533, nssv2783264, nssv2782952, nssv2783899, nssv2782628, nssv2781747, nssv2779870, nssv2783968, nssv2780796, nssv2779643, nssv2778930, nssv2783964, nssv2785078, nssv2785577, nssv2779785, nssv2782528, nssv2782756, nssv2783217, nssv2784375, nssv2781940, nssv2782296, nssv2781876, nssv2782819, nssv2786508, nssv2778789, nssv2780377, nssv2781550, nssv2781811, nssv2788096, nssv2782326, nssv2779411, nssv2781655, nssv2785836, nssv2783773, nssv2781049, nssv2787706, nssv2779706, nssv2783865, nssv2787475, nssv2786685, nssv2785044, nssv2785086, nssv2786248, nssv2779602, nssv2783847, nssv2783955, nssv2787043, nssv2783072, nssv2785331, nssv2785825, nssv2788357, nssv2782026, nssv2778545, nssv2785835, nssv2780376, nssv2781054, nssv2783290, nssv2788453, nssv2778843, nssv2781153, nssv2783243, nssv2782901, nssv2781083, nssv2780431, nssv2784658, nssv2787729, nssv2786823, nssv2785126, nssv2781663, nssv2784985, nssv2779652, nssv2780561, nssv2779548, nssv2788019, nssv2786092, nssv2781285, nssv2779559, nssv2780830, nssv2778834, nssv2778742, nssv2780195, nssv2787678, nssv2778876, nssv2779981, nssv2779506, nssv2785325, nssv2784130, nssv2784219, nssv2785941, nssv2782276, nssv2784695, nssv2786432, nssv2786165, nssv2784251, nssv2787716
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, 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, NA19247, NA12239, 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, NA19235, NA12891, NA18987, NA12890, NA12146, NA07055, NA19138, NA21476, NA10860, NA18909, NA06991, NA19193, NA19128, NA18857, NA19115, NA12889, NA19116, NA21360, NA19123, NA19097, NA19132, NA21383, NA21480, NA10845, NA18577, NA19099, NA07022, NA12878, NA21362, NA11830, NA11992, NA21366, NA19205, NA19225, NA10838, NA18852, NA18917, NA19224, NA11993, NA12399, NA12546, NA12842, NA19160, NA21583, NA12248, NA18499, NA18571, NA18924, NA19179, NA19198, NA12817, NA19118, NA12045, NA18611, NA19095, NA10840, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA19113, NA18981, NA21614, NA18908, NA19177, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA19202, NA07000, NA12775, NA19121, NA10864, NA18980, NA21636, NA07031, NA21526, 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, NA12752, NA12875, NA21478, NA21599, NA18612, NA18869, NA18500, NA19149, NA21404, NA18550, NA18570, NA19003, 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, 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, NA18973, NA21608, NA12830, 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
Known GenesKLRC2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514645
Frequency
Sample Size2366
Observed Gain469
Observed Loss0
Observed Complex0
Frequencyn/a


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