A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514037



Internal ID15812589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202420777..202432873hg38UCSC Ensembl
Innerchr1:202389905..202402001hg19UCSC Ensembl
Innerchr1:200656528..200668624hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812097
hg1912097
hg1812097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2854427, nssv2856425, nssv2854431, nssv2856455, nssv2854481, nssv2854443, nssv2856490, nssv2856440, nssv2853241, nssv2853273, nssv2856429, nssv2854404, nssv2853226, nssv2854486, nssv2856434, nssv2854399, nssv2856454, nssv2854423, nssv2856430, nssv2854457, nssv2854439, nssv2856507, nssv2854482, nssv2854416, nssv2854421, nssv2856439, nssv2856465, nssv2854441, nssv2856444, nssv2854460, nssv2853240, nssv2856470, nssv2856487, nssv2854472, nssv2854413, nssv2853243, nssv2856457, nssv2856452, nssv2856466, nssv2853269, nssv2854455, nssv2854401, nssv2853256, nssv2856480, nssv2854436, nssv2856469, nssv2856456, nssv2853277, nssv2854487, nssv2854449, nssv2853225, nssv2854412, nssv2853287, nssv2856492, nssv2856432, nssv2853278, nssv2853255, nssv2856467, nssv2854465, nssv2854478, nssv2854403, nssv2854476, nssv2853252, nssv2854488, nssv2854469, nssv2853272, nssv2853236, nssv2853235, nssv2854490, nssv2854422, nssv2854467, nssv2854445, nssv2856422, nssv2853288, nssv2853282, nssv2856443, nssv2853285, nssv2854417, nssv2856421, nssv2856436, nssv2853239, nssv2856501, nssv2854437, nssv2856448, nssv2856423, nssv2854464, nssv2853232, nssv2856500, nssv2854477, nssv2853224, nssv2856495, nssv2856453, nssv2853237, nssv2856450, nssv2854432, nssv2854402, nssv2854434, nssv2856468, nssv2856447, nssv2856472, nssv2854415, nssv2853286, nssv2856479, nssv2854489, nssv2856451, nssv2854483, nssv2854452, nssv2853290, nssv2853253, nssv2854430, nssv2856438, nssv2856445, nssv2854433, nssv2853246, nssv2856446, nssv2856424, nssv2854463, nssv2854410, nssv2854446, nssv2853228, nssv2854466, nssv2856420, nssv2856441, nssv2854459, nssv2854473, nssv2853264, nssv2853271, nssv2854450, nssv2854453, nssv2854440, nssv2856461, nssv2854491, nssv2853251, nssv2856463, nssv2856486, nssv2856477, nssv2856442, nssv2854425, nssv2856493, nssv2853238, nssv2856505, nssv2856471, nssv2854451, nssv2853250, nssv2856502, nssv2856509, nssv2853259, nssv2856437, nssv2854474, nssv2856478, nssv2853276, nssv2856494, nssv2853248, nssv2854475, nssv2856483, nssv2856431, nssv2853274, nssv2856510, nssv2853245, nssv2853227, nssv2854470, nssv2854406, nssv2856482, nssv2853229, nssv2854442, nssv2854454, nssv2854426, nssv2853254, nssv2853247, nssv2856458, nssv2854418, nssv2854414, nssv2853266, nssv2856459, nssv2853281, nssv2854409, nssv2856491, nssv2853257, nssv2856464, nssv2856506, nssv2856481, nssv2854447, nssv2853291, nssv2853267, nssv2853261, nssv2854400, nssv2854420, nssv2856474, nssv2854428, nssv2854438, nssv2856485, nssv2854468, nssv2856460, nssv2853265, nssv2853242, nssv2853230, nssv2854408, nssv2856435, nssv2854462, nssv2853280, nssv2856462, nssv2853262, nssv2856426, nssv2854485, nssv2854419, nssv2853284, nssv2854444, nssv2856496, nssv2856488, nssv2853260, nssv2854429, nssv2854407, nssv2853279, nssv2856449, nssv2854480, nssv2856498, nssv2856508, nssv2853283, nssv2856427, nssv2856503, nssv2854458, nssv2853263, nssv2854411, nssv2856489, nssv2853233, nssv2853268, nssv2853234, nssv2856433, nssv2854424, nssv2854461, nssv2856497, nssv2854435, nssv2856476, nssv2854471, nssv2856428, nssv2853231, nssv2854405, nssv2856504, nssv2854456, nssv2856484, nssv2853289, nssv2853249, nssv2853258, nssv2853270, nssv2853244, nssv2856499, nssv2854484, nssv2856473, nssv2856475, nssv2853275, nssv2854479, nssv2854448
SamplesNA19258, NA21317, NA12842, NA21488, NA21423, NA18621, NA12286, NA18862, NA10851, NA18524, NA18935, NA12344, NA18925, NA12801, NA18504, NA12340, NA12146, NA18959, NA21475, NA21301, NA18633, NA21522, NA18510, NA12750, NA12399, NA19107, NA18563, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA21359, NA18995, NA19191, NA18923, NA18558, NA18960, NA07048, NA07347, NA21381, NA19130, NA11930, NA19123, NA18868, NA11994, NA19207, NA19128, NA18966, NA18990, NA21523, NA19239, NA21387, NA21344, NA12777, NA21307, NA18605, NA21313, NA12760, NA12752, NA19120, NA07022, NA19194, NA19175, NA19161, NA12485, NA19184, NA18485, NA12877, NA18871, NA19103, NA18572, NA18948, NA21366, NA19208, NA11919, NA19177, NA19142, NA19150, NA12829, NA11893, NA19181, NA12056, NA19154, NA18857, NA19252, NA12144, NA10856, NA12546, NA19012, NA21316, NA18974, NA12043, NA21608, NA18953, NA18632, NA19256, NA18863, NA12272, NA21718, NA21390, NA12347, NA19117, NA18501, NA06994, NA07435, NA19223, NA19178, NA07349, NA19211, NA18636, NA18509, NA18609, NA11843, NA21384, NA18872, NA19121, NA18624, NA12154, NA18612, NA10837, NA18487, NA18620, NA18497, NA19141, NA21477, NA19186, NA21383, NA19249, NA11829, NA10845, NA12814, NA18507, NA21399, NA19145, NA18917, NA18603, NA12045, NA19092, NA18486, NA21648, NA12248, NA10857, NA19098, NA12155, NA07357, NA18967, NA19005, NA12812, NA19119, NA18635, NA19198, NA18860, NA12891, NA11992, NA21401, NA19138, NA18498, NA06993, NA18611, NA11917, NA12282, NA12005, NA21447, NA18970, NA18874, NA12274, NA06984, NA21512, NA21525, NA21453, NA21478, NA12889, NA21716, NA19189, NA21634, NA21442, NA18908, NA12375, NA19200, NA12748, NA19007, NA11831, NA21599, NA12335, NA19210, NA18934, NA12872, NA18859, NA19205, NA19236, NA18516, NA21439, NA18637, NA18910, NA18503, NA11839, NA10838, NA21485, NA19000, NA10830, NA18856, NA19113, NA18853, NA12827, NA12264, NA12817, NA19101, NA12766, NA21583, NA19160, NA18945, NA18608, NA06995, NA12716, NA11881, NA18961, NA18952, NA12864, NA12775, NA19174, NA19144, NA07051, NA18869, NA12874, NA18911, NA06986, NA19248, NA18971, NA19173, NA18994, NA10860, NA18500, NA18506, NA21581, NA21614, NA19096, NA18854, NA21312, NA21389, NA21490, NA19224, NA19146, NA21514, NA21440, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
Known GenesPPP1R12B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514037
Frequency
Sample Size2366
Observed Gain252
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer