A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515042



Internal ID15813401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144350870..144380582hg38UCSC Ensembl
Innerchr7:144047963..144077675hg19UCSC Ensembl
Innerchr7:143678896..143708608hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3829713
hg1929713
hg1829713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2944175, nssv2944136, nssv2944119, nssv2944109, nssv2945303, nssv2945257, nssv2944198, nssv2942823, nssv2945410, nssv2945292, nssv2944146, nssv2945295, nssv2945220, nssv2942829, nssv2945392, nssv2945281, nssv2942863, nssv2942861, nssv2944079, nssv2945395, nssv2944049, nssv2945279, nssv2942836, nssv2945230, nssv2942839, nssv2945390, nssv2942920, nssv2944139, nssv2945255, nssv2945261, nssv2945274, nssv2942879, nssv2944077, nssv2945239, nssv2942854, nssv2944076, nssv2942917, nssv2942866, nssv2945324, nssv2945314, nssv2942855, nssv2944126, nssv2942906, nssv2945399, nssv2942846, nssv2945221, nssv2945354, nssv2944156, nssv2942862, nssv2944168, nssv2944201, nssv2945323, nssv2944113, nssv2945353, nssv2945373, nssv2942876, nssv2945361, nssv2945268, nssv2945251, nssv2944209, nssv2945411, nssv2942845, nssv2945240, nssv2945286, nssv2942884, nssv2944052, nssv2942909, nssv2942856, nssv2945300, nssv2944056, nssv2945403, nssv2945350, nssv2944096, nssv2945225, nssv2945394, nssv2942878, nssv2944071, nssv2945241, nssv2944089, nssv2945396, nssv2945327, nssv2944031, nssv2944169, nssv2942922, nssv2945232, nssv2944192, nssv2944082, nssv2944165, nssv2942844, nssv2942842, nssv2944091, nssv2945270, nssv2944114, nssv2944105, nssv2944059, nssv2945254, nssv2944093, nssv2942872, nssv2944128, nssv2942910, nssv2942893, nssv2945376, nssv2945248, nssv2944103, nssv2942905, nssv2942857, nssv2945208, nssv2945296, nssv2944134, nssv2945360, nssv2945364, nssv2945304, nssv2942827, nssv2942914, nssv2944207, nssv2944112, nssv2942868, nssv2944098, nssv2944035, nssv2944166, nssv2944185, nssv2944123, nssv2942912, nssv2944148, nssv2945365, nssv2945266, nssv2944033, nssv2945368, nssv2942904, nssv2945253, nssv2945234, nssv2944196, nssv2944163, nssv2944161, nssv2945285, nssv2945252, nssv2945210, nssv2945209, nssv2944037, nssv2944152, nssv2944174, nssv2945260, nssv2945276, nssv2944205, nssv2942896, nssv2942890, nssv2945228, nssv2945313, nssv2945407, nssv2945334, nssv2942860, nssv2942838, nssv2945391, nssv2944179, nssv2945362, nssv2945305, nssv2945290, nssv2945332, nssv2944143, nssv2942831, nssv2945206, nssv2942913, nssv2945242, nssv2945211, nssv2945400, nssv2944155, nssv2945356, nssv2944138, nssv2945262, nssv2945342, nssv2944060, nssv2945217, nssv2945214, nssv2944170, nssv2945294, nssv2944043, nssv2945393, nssv2944160, nssv2945249, nssv2944038, nssv2945238, nssv2944085, nssv2945284, nssv2944181, nssv2942848, nssv2942873, nssv2945308, nssv2945341, nssv2945333, nssv2944064, nssv2942832, nssv2944102, nssv2944195, nssv2944115, nssv2944057, nssv2945351, nssv2945299, nssv2942889, nssv2945207, nssv2945273, nssv2944142, nssv2944092, nssv2942830, nssv2945401, nssv2944090, nssv2942882, nssv2945269, nssv2945226, nssv2944149, nssv2945349, nssv2944132, nssv2944094, nssv2942915, nssv2944151, nssv2944062, nssv2944055, nssv2945329, nssv2945387, nssv2944172, nssv2945372, nssv2945374, nssv2944070, nssv2944099, nssv2945343, nssv2945326, nssv2944054, nssv2944131, nssv2944068, nssv2944206, nssv2945277, nssv2942869, nssv2942901, nssv2945271, nssv2944182, nssv2942902, nssv2945378, nssv2945370, nssv2945325, nssv2942891, nssv2945291, nssv2944065, nssv2942898, nssv2942919, nssv2942825, nssv2942907, nssv2942851, nssv2945340, nssv2945219, nssv2945256, nssv2944180, nssv2944202, nssv2944184, nssv2945336, nssv2945264, nssv2945315, nssv2945246, nssv2942894, nssv2944046, nssv2945320, nssv2942867, nssv2945272, nssv2944186, nssv2945331, nssv2945348, nssv2942908, nssv2942874, nssv2944036, nssv2945275, nssv2944147, nssv2942900, nssv2944061, nssv2945388, nssv2945345, nssv2944041, nssv2945339, nssv2944177, nssv2945409, nssv2944122, nssv2944087, nssv2944081, nssv2945317, nssv2945244, nssv2942835, nssv2944135, nssv2942870, nssv2945347, nssv2944078, nssv2945212, nssv2942822, nssv2942877, nssv2942864, nssv2944040, nssv2945216, nssv2944204, nssv2944039, nssv2942821, nssv2945312, nssv2945330, nssv2945243, nssv2945344, nssv2944150, nssv2944153, nssv2944034, nssv2945278, nssv2944124, nssv2942899, nssv2942916, nssv2942858, nssv2945263, nssv2944069, nssv2942840, nssv2945404, nssv2942886, nssv2944107, nssv2945224, nssv2945408, nssv2945335, nssv2944048, nssv2944194, nssv2944118, nssv2945231, nssv2945223, nssv2942892, nssv2944190, nssv2942895, nssv2944097, nssv2945371, nssv2945363, nssv2942911, nssv2945380, nssv2944110, nssv2944140, nssv2944208, nssv2944158, nssv2942852, nssv2945381, nssv2944154, nssv2944051, nssv2944129, nssv2942903, nssv2942850, nssv2945402, nssv2945280, nssv2945398, nssv2942837, nssv2942918, nssv2942885, nssv2944167, nssv2945306, nssv2945379, nssv2945318, nssv2945297, nssv2944127, nssv2944120, nssv2944116, nssv2944203, nssv2945338, nssv2944073, nssv2944066, nssv2944157, nssv2944137, nssv2944072, nssv2945298, nssv2945288, nssv2944189, nssv2945322, nssv2944164, nssv2944187, nssv2944162, nssv2945283, nssv2945386, nssv2945311, nssv2945319, nssv2944101, nssv2945375, nssv2945346, nssv2945328, nssv2944095, nssv2944191, nssv2945267, nssv2945265, nssv2945218, nssv2942843, nssv2945250, nssv2944044, nssv2942921, nssv2944141, nssv2944200, nssv2944080, nssv2942859, nssv2944111, nssv2945222, nssv2944045, nssv2944084, nssv2945358, nssv2944188, nssv2944058, nssv2942847, nssv2944178, nssv2944104, nssv2942828, nssv2945355, nssv2945307, nssv2944193, nssv2945321, nssv2945282, nssv2944197, nssv2942849, nssv2944030, nssv2945406, nssv2945369, nssv2945357, nssv2944106, nssv2942833, nssv2945382, nssv2945366, nssv2945377, nssv2945367, nssv2944130, nssv2945397, nssv2944145, nssv2945405, nssv2945236, nssv2944042, nssv2944067, nssv2945289, nssv2944053, nssv2945287, nssv2942880, nssv2944176, nssv2945293, nssv2944144, nssv2944125, nssv2942875, nssv2945229, nssv2944121, nssv2944047, nssv2945359, nssv2945213, nssv2944133, nssv2944171, nssv2944100, nssv2945352, nssv2945301, nssv2942881, nssv2942883, nssv2944173, nssv2945385, nssv2945245, nssv2945383, nssv2942897, nssv2942865, nssv2942826, nssv2944063, nssv2945310, nssv2944159, nssv2942841, nssv2945247, nssv2945215, nssv2945316, nssv2944117, nssv2942834, nssv2945337, nssv2942871, nssv2945259, nssv2945227, nssv2944086, nssv2945309, nssv2944074, nssv2944075, nssv2942888, nssv2945384, nssv2945235, nssv2945233, nssv2945258, nssv2944050, nssv2944183, nssv2944083, nssv2945302, nssv2942887, nssv2942824, nssv2944088, nssv2944199, nssv2945389, nssv2945237, nssv2944032, nssv2942853, nssv2944108
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 GenesARHGEF5
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515042
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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