A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514909



Internal ID15466543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103567263..103630575hg38UCSC Ensembl
Innerchr1:104109885..104173197hg19UCSC Ensembl
Innerchr1:103911408..103974720hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3863313
hg1963313
hg1863313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2845212, nssv2846673, nssv2845319, nssv2846684, nssv2845179, nssv2845276, nssv2845360, nssv2845465, nssv2846781, nssv2845392, nssv2845434, nssv2845269, nssv2845381, nssv2845408, nssv2845229, nssv2845443, nssv2845275, nssv2845252, nssv2846779, nssv2846785, nssv2845485, nssv2845500, nssv2846741, nssv2845497, nssv2845398, nssv2845361, nssv2845220, nssv2845353, nssv2845241, nssv2845420, nssv2846661, nssv2845407, nssv2845409, nssv2845335, nssv2845304, nssv2845333, nssv2845264, nssv2845205, nssv2846715, nssv2845436, nssv2846679, nssv2846698, nssv2845477, nssv2845197, nssv2845258, nssv2845194, nssv2845198, nssv2845446, nssv2845170, nssv2845322, nssv2845494, nssv2846693, nssv2845416, nssv2845231, nssv2845297, nssv2845380, nssv2845472, nssv2845502, nssv2845168, nssv2845315, nssv2845457, nssv2845403, nssv2845207, nssv2845244, nssv2846703, nssv2845295, nssv2846710, nssv2845376, nssv2845400, nssv2845471, nssv2846694, nssv2845306, nssv2845459, nssv2845396, nssv2846747, nssv2845490, nssv2845239, nssv2845291, nssv2845390, nssv2845211, nssv2846719, nssv2845310, nssv2846764, nssv2845478, nssv2845342, nssv2845470, nssv2845418, nssv2845412, nssv2845466, nssv2846722, nssv2845184, nssv2846716, nssv2846672, nssv2846689, nssv2845481, nssv2846727, nssv2846729, nssv2845178, nssv2846683, nssv2845191, nssv2846664, nssv2846759, nssv2846775, nssv2845348, nssv2845488, nssv2846685, nssv2845365, nssv2845303, nssv2846723, nssv2846704, nssv2845175, nssv2846706, nssv2845429, nssv2846655, nssv2845377, nssv2845435, nssv2846666, nssv2845314, nssv2845359, nssv2846758, nssv2845228, nssv2845235, nssv2846709, nssv2845245, nssv2845419, nssv2845340, nssv2845386, nssv2845504, nssv2846713, nssv2845480, nssv2845487, nssv2846678, nssv2845195, nssv2845219, nssv2845367, nssv2845388, nssv2845300, nssv2845323, nssv2845438, nssv2846740, nssv2845343, nssv2846743, nssv2846786, nssv2845447, nssv2845373, nssv2845210, nssv2846733, nssv2845302, nssv2845327, nssv2845190, nssv2845283, nssv2845453, nssv2845292, nssv2845332, nssv2846730, nssv2846681, nssv2845189, nssv2845281, nssv2845309, nssv2845192, nssv2846769, nssv2846787, nssv2845223, nssv2846690, nssv2846782, nssv2846656, nssv2845355, nssv2845441, nssv2845389, nssv2846658, nssv2845324, nssv2846754, nssv2845379, nssv2845406, nssv2845298, nssv2845185, nssv2845366, nssv2846687, nssv2846732, nssv2845251, nssv2845273, nssv2845345, nssv2846780, nssv2845253, nssv2845413, nssv2845224, nssv2845308, nssv2845433, nssv2845394, nssv2846776, nssv2845286, nssv2845296, nssv2845317, nssv2845371, nssv2845423, nssv2845209, nssv2845230, nssv2845176, nssv2845200, nssv2845326, nssv2846735, nssv2845336, nssv2846794, nssv2845208, nssv2845290, nssv2846755, nssv2845236, nssv2846714, nssv2845492, nssv2845460, nssv2845427, nssv2845461, nssv2846670, nssv2846677, nssv2846760, nssv2845203, nssv2845501, nssv2846657, nssv2846696, nssv2846674, nssv2845462, nssv2846778, nssv2845378, nssv2846718, nssv2846751, nssv2845213, nssv2845486, nssv2846686, nssv2846762, nssv2845206, nssv2845357, nssv2845430, nssv2845289, nssv2845405, nssv2845452, nssv2845498, nssv2845426, nssv2846668, nssv2845349, nssv2845437, nssv2846682, nssv2845226, nssv2845277, nssv2845201, nssv2846680, nssv2846717, nssv2845233, nssv2845279, nssv2845356, nssv2845414, nssv2846793, nssv2845402, nssv2845248, nssv2846728, nssv2846736, nssv2845475, nssv2846700, nssv2846761, nssv2846707, nssv2845216, nssv2845305, nssv2845331, nssv2846767, nssv2845199, nssv2845440, nssv2845169, nssv2845257, nssv2845287, nssv2845329, nssv2845374, nssv2845218, nssv2845354, nssv2846742, nssv2846790, nssv2845385, nssv2845214, nssv2845382, nssv2846752, nssv2845247, nssv2846744, nssv2845225, nssv2846663, nssv2846676, nssv2846659, nssv2845476, nssv2845387, nssv2845268, nssv2845278, nssv2845250, nssv2846768, nssv2845288, nssv2845330, nssv2845285, nssv2845467, nssv2846708, nssv2845246, nssv2845334, nssv2845482, nssv2846669, nssv2845186, nssv2845274, nssv2845415, nssv2845337, nssv2845421, nssv2846748, nssv2845301, nssv2845474, nssv2845232, nssv2845267, nssv2845344, nssv2846720, nssv2846771, nssv2845364, nssv2845362, nssv2846726, nssv2846721, nssv2845172, nssv2846737, nssv2845222, nssv2845174, nssv2845445, nssv2845181, nssv2846724, nssv2845266, nssv2846766, nssv2845180, nssv2845217, nssv2845468, nssv2845401, nssv2845237, nssv2845240, nssv2845234, nssv2846750, nssv2845347, nssv2845454, nssv2845393, nssv2845221, nssv2845432, nssv2845503, nssv2845171, nssv2845227, nssv2846753, nssv2845410, nssv2846746, nssv2845442, nssv2846773, nssv2845204, nssv2845249, nssv2845338, nssv2845383, nssv2846770, nssv2845455, nssv2845411, nssv2845449, nssv2845173, nssv2845439, nssv2845339, nssv2845456, nssv2845312, nssv2845399, nssv2846774, nssv2845254, nssv2845282, nssv2845346, nssv2846731, nssv2845368, nssv2846711, nssv2846756, nssv2845341, nssv2845483, nssv2845294, nssv2845422, nssv2846691, nssv2845202, nssv2845238, nssv2845215, nssv2845448, nssv2845395, nssv2846712, nssv2845358, nssv2845187, nssv2845307, nssv2845375, nssv2845493, nssv2845316, nssv2845505, nssv2845491, nssv2845261, nssv2846671, nssv2845313, nssv2845496, nssv2845177, nssv2845370, nssv2845391, nssv2846745, nssv2845265, nssv2846688, nssv2846757, nssv2845311, nssv2845255, nssv2845479, nssv2845183, nssv2846763, nssv2845351, nssv2845444, nssv2845464, nssv2845256, nssv2845384, nssv2846792, nssv2845243, nssv2846788, nssv2845188, nssv2845372, nssv2845424, nssv2845196, nssv2845270, nssv2846667, nssv2846692, nssv2846697, nssv2846784, nssv2846789, nssv2845320, nssv2845495, nssv2845271, nssv2845263, nssv2845272, nssv2845428, nssv2846705, nssv2845404, nssv2845363, nssv2846665, nssv2846675, nssv2846772, nssv2845259, nssv2846738, nssv2845262, nssv2845473, nssv2845469, nssv2845318, nssv2846791, nssv2846699, nssv2846777, nssv2845484, nssv2845489, nssv2845321, nssv2845299, nssv2846783, nssv2845369, nssv2846749, nssv2845451, nssv2846695, nssv2846734, nssv2845280, nssv2845431, nssv2846739, nssv2845182, nssv2846660, nssv2845260, nssv2845293, nssv2845242, nssv2846662, nssv2845499, nssv2846701, nssv2845450, nssv2845425, nssv2845397, nssv2845325, nssv2845328, nssv2845417, nssv2846725, nssv2845284, nssv2846702, nssv2845350, nssv2846765, nssv2845458, nssv2845352, nssv2845193, nssv2845463
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, 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, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19148, NA19239, NA11839, NA11840, NA12753, 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, NA19000, NA21442, NA19247, NA12239, NA12145, NA07346, NA12716, NA19129, NA19189, NA21525, NA18633, NA21316, NA12778, NA12877, NA21388, NA18968, NA19102, NA12275, NA19005, NA18510, NA19119, NA21455, NA12485, NA19154, NA21382, NA10856, NA21303, NA21485, NA18978, NA11892, NA18961, NA19237, NA18925, NA10836, NA12283, NA18910, NA19141, NA18940, NA19235, NA12891, NA18987, NA12890, NA12146, NA07055, NA19138, NA12272, NA21476, NA10860, NA18909, NA19201, NA21439, NA06991, NA19193, NA19128, NA12812, NA18857, NA19115, NA12889, NA19116, NA21360, NA19123, NA19097, NA19132, NA21383, NA21480, NA10845, NA07022, NA12878, NA21362, NA11830, NA21366, NA19205, NA19225, NA18852, NA19224, NA12546, NA12842, NA19160, NA21583, NA12248, NA18571, NA18924, NA19179, NA19198, NA12817, NA19118, NA12045, NA18611, NA19095, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA19113, NA18935, NA18981, NA21614, NA18908, NA19177, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA19202, NA07000, NA12775, NA19121, NA10864, NA18980, NA21636, NA21494, NA21526, NA07435, NA19142, NA19137, NA19183, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA12748, NA21490, NA12344, NA07037, NA21524, NA12802, NA19222, NA21317, NA18933, NA21580, NA18952, NA18975, NA07056, NA18874, NA19173, NA19174, NA19252, NA12752, NA12875, NA21478, NA21599, NA18612, NA18869, NA18500, NA21307, NA19149, NA21404, NA18550, NA18570, NA19003, NA21600, 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, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA12864, NA18563, NA07357, NA12873, NA12343, NA18991, NA18930, NA12814, NA12740, NA18856, NA21359, NA07048, NA21453, NA21477, NA18547, NA19182, NA21523, NA12829, NA19256, NA21522, NA18973, NA21608, NA12830, NA19100, NA18970, NA12708, NA19153, NA18518, NA18537, NA18620, NA19122, NA19172, 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, NA06984, NA18867, NA21601, NA12375, NA18872, NA12156, NA12386, NA06995, NA21389, NA10835, NA18971, NA10830, NA18577, NA19099, NA11992, NA10838, NA18917, NA11993, NA12399
Known GenesACTG1P4, AMY2A, AMY2B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514909
Frequency
Sample Size2366
Observed Gain478
Observed Loss0
Observed Complex0
Frequencyn/a


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