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 Variantsnssv2784664, nssv2781849, nssv2786533, nssv2782313, nssv2779981, nssv2782612, nssv2784205, nssv2778773, nssv2784184, nssv2778675, nssv2786432, nssv2786781, nssv2783443, nssv2787844, nssv2783116, nssv2781940, nssv2788019, nssv2786092, nssv2781811, nssv2782922, nssv2779548, nssv2784633, nssv2788044, nssv2785816, nssv2782571, nssv2778797, nssv2786626, nssv2780404, nssv2787318, nssv2779411, nssv2785870, nssv2781229, nssv2785385, nssv2783847, nssv2781550, nssv2780856, nssv2781083, nssv2785610, nssv2784651, nssv2782276, nssv2785533, nssv2783615, nssv2785130, nssv2780530, nssv2784383, nssv2784619, nssv2782952, nssv2785086, nssv2786050, nssv2784971, nssv2784596, nssv2781105, nssv2781625, nssv2786901, nssv2781747, nssv2778651, nssv2779094, nssv2787175, nssv2781054, nssv2781893, nssv2781049, nssv2781540, nssv2785634, nssv2780376, nssv2782510, nssv2788189, nssv2783817, nssv2779870, nssv2778990, nssv2783773, nssv2779364, nssv2781398, nssv2780830, nssv2780329, nssv2780926, nssv2780345, nssv2782829, nssv2779643, nssv2779970, nssv2783686, nssv2786760, nssv2784589, nssv2787556, nssv2785337, nssv2784178, nssv2785428, nssv2780561, nssv2782723, nssv2784777, nssv2783546, nssv2783470, nssv2783846, nssv2778847, nssv2782476, nssv2787626, nssv2784288, nssv2786446, nssv2787698, nssv2780897, nssv2787089, nssv2788198, nssv2786420, nssv2783217, nssv2778960, nssv2778843, nssv2781977, nssv2780624, nssv2787159, nssv2784159, nssv2781643, nssv2779658, nssv2788325, nssv2782347, nssv2785192, nssv2784595, nssv2783374, nssv2780045, nssv2786685, nssv2784425, nssv2788231, nssv2779213, nssv2786403, nssv2786437, nssv2784265, nssv2785444, nssv2778658, nssv2779575, nssv2781465, nssv2782428, nssv2778742, nssv2781916, nssv2781153, nssv2784879, nssv2784386, nssv2782756, nssv2779295, nssv2779090, nssv2786819, nssv2784251, nssv2787547, nssv2784912, nssv2778580, nssv2780248, nssv2787986, nssv2779706, nssv2784695, nssv2787976, nssv2786601, nssv2783753, nssv2782986, nssv2787678, nssv2782528, nssv2785180, nssv2786672, nssv2786113, nssv2784295, nssv2779652, nssv2783191, nssv2786431, nssv2783394, nssv2784219, nssv2779374, nssv2785534, nssv2785126, nssv2788218, nssv2780857, nssv2783473, nssv2788254, nssv2784972, nssv2778765, nssv2779559, nssv2788375, nssv2785078, nssv2788349, nssv2782280, nssv2785169, nssv2779363, nssv2788096, nssv2783290, nssv2785216, nssv2782597, nssv2787716, nssv2787487, nssv2782463, nssv2787140, nssv2780643, nssv2778894, nssv2785503, nssv2781084, nssv2786534, nssv2780560, nssv2779401, nssv2787005, nssv2787601, nssv2783955, nssv2784803, nssv2784138, nssv2782013, nssv2783243, nssv2780351, nssv2780529, nssv2786972, nssv2786627, nssv2778796, nssv2785331, nssv2781858, nssv2785330, nssv2780117, nssv2781648, nssv2778786, nssv2779178, nssv2784862, nssv2780906, nssv2785651, nssv2778644, nssv2778876, nssv2786495, nssv2783252, nssv2787358, nssv2786823, nssv2786186, nssv2780709, nssv2778893, nssv2788188, nssv2787777, nssv2784397, nssv2787199, nssv2788274, nssv2788074, nssv2787972, nssv2784107, nssv2787224, nssv2783881, nssv2783943, nssv2787043, nssv2778663, nssv2781285, nssv2787557, nssv2785941, nssv2785275, nssv2786593, nssv2782326, nssv2782296, nssv2778789, nssv2781876, nssv2780181, nssv2778545, nssv2784473, nssv2779164, nssv2780583, nssv2788116, nssv2780372, nssv2781159, nssv2781074, nssv2783140, nssv2788494, nssv2786726, nssv2781014, nssv2781892, nssv2780557, nssv2779019, nssv2785223, nssv2783854, nssv2784149, nssv2778930, nssv2788195, nssv2780489, nssv2787090, nssv2785960, nssv2781863, nssv2779506, nssv2781663, nssv2787538, nssv2781574, nssv2786357, nssv2781025, nssv2786239, nssv2788466, nssv2783929, nssv2787081, nssv2783281, nssv2784689, nssv2780090, nssv2779850, nssv2786241, nssv2781494, nssv2781091, nssv2779785, nssv2783968, nssv2779348, nssv2781716, nssv2782887, nssv2787843, nssv2783956, nssv2781273, nssv2779367, nssv2785357, nssv2785314, nssv2781655, nssv2783518, nssv2783899, nssv2785325, nssv2785145, nssv2783907, nssv2784985, nssv2784635, nssv2780882, nssv2784057, nssv2780000, nssv2779556, nssv2786508, nssv2779077, nssv2784130, nssv2782475, nssv2780571, nssv2781807, nssv2778935, nssv2786165, nssv2781289, nssv2780309, nssv2779804, nssv2786306, nssv2782587, nssv2781720, nssv2783223, nssv2785577, nssv2779686, nssv2787555, nssv2787018, nssv2779862, nssv2779727, nssv2787717, nssv2781855, nssv2783309, nssv2785276, nssv2781301, nssv2779299, nssv2788318, nssv2788243, nssv2780742, nssv2784375, nssv2780816, nssv2781787, nssv2781862, nssv2787706, nssv2780796, nssv2782244, nssv2783059, nssv2785875, nssv2782985, nssv2783545, nssv2782026, nssv2780183, nssv2781539, nssv2785836, nssv2779097, nssv2779602, nssv2785787, nssv2783580, nssv2782628, nssv2779856, nssv2783472, nssv2781549, nssv2783985, nssv2787082, nssv2785044, nssv2788453, nssv2783147, nssv2780785, nssv2785825, nssv2785349, nssv2786639, nssv2782819, nssv2785293, nssv2781656, nssv2780469, nssv2783471, nssv2783072, nssv2781318, nssv2780196, nssv2783211, nssv2781028, nssv2787009, nssv2782901, nssv2779664, nssv2782527, nssv2787961, nssv2778772, nssv2779358, nssv2786266, nssv2783213, nssv2788275, nssv2779971, nssv2784613, nssv2781636, nssv2779782, nssv2783264, nssv2782844, nssv2781847, nssv2780431, nssv2779337, nssv2782845, nssv2781511, nssv2783912, nssv2778834, nssv2782694, nssv2788343, nssv2788473, nssv2788357, nssv2784677, nssv2783148, nssv2783633, nssv2787729, nssv2787728, nssv2784344, nssv2783823, nssv2785781, nssv2784037, nssv2786203, nssv2779838, nssv2783865, nssv2782894, nssv2781711, nssv2779540, nssv2784658, nssv2783964, nssv2788230, nssv2788491, nssv2784612, nssv2787277, nssv2786158, nssv2785236, nssv2784296, nssv2778525, nssv2787845, nssv2778679, nssv2787260, nssv2782732, nssv2782192, nssv2784160, nssv2782139, nssv2784590, nssv2780195, nssv2780394, nssv2780574, nssv2780808, nssv2780377, nssv2778701, nssv2781279, nssv2782164, nssv2784918, nssv2785708, nssv2781138, nssv2787475, nssv2787566, nssv2784297, nssv2780932, nssv2781583, nssv2785835, nssv2780455, nssv2788364, nssv2787174, nssv2786248, nssv2778499, nssv2786412, nssv2785358, nssv2783280, nssv2787888, nssv2782882
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, 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, 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, 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, NA10863, NA12872, NA18859, NA18991, NA18910, NA19097, NA19221, NA19118, 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, NA12344, NA21310, NA18925, NA12340, NA18959, NA21301, NA21360, NA18510, NA12399, NA18969, NA19107, NA07346, NA18563, 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, NA12144, NA18570, NA12546, NA19012, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA19115, NA19149, NA19147, NA21390, NA07348, NA21361, NA18501, NA18484, NA06994, 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, NA19119, NA19198, NA12891, NA12348, NA11992, NA21401, NA12283, NA19138, NA18964, NA06993, NA18611, NA11917, NA18970, NA07019, NA19180, NA18874, NA12274, NA06984, NA21454, NA19137, NA21478, NA10855, NA21634, NA18975, NA19200, NA11993, NA11831, NA10847, NA21599, NA21480, NA12335, NA19210, NA18934, NA10836, NA12343, NA10831, NA19152, NA18956, NA19205, NA19236, NA18516, NA18637, NA12376, NA18503, NA11839, NA10838, NA21485, NA19179, 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, 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 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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