A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514457



Internal ID15466143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148376135..148379271hg38UCSC Ensembl
Innerchr7:148073227..148076363hg19UCSC Ensembl
Innerchr7:147704160..147707296hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2944800, nssv2944833, nssv2944346, nssv2944392, nssv2944872, nssv2944806, nssv2944862, nssv2944914, nssv2944363, nssv2944385, nssv2944299, nssv2944357, nssv2944396, nssv2944982, nssv2944959, nssv2944788, nssv2944249, nssv2944389, nssv2944375, nssv2944811, nssv2944313, nssv2944371, nssv2944324, nssv2944986, nssv2944840, nssv2944892, nssv2944388, nssv2944940, nssv2944981, nssv2944945, nssv2944302, nssv2944235, nssv2944896, nssv2944832, nssv2944320, nssv2944260, nssv2944340, nssv2944774, nssv2944898, nssv2944384, nssv2944852, nssv2944925, nssv2944846, nssv2944390, nssv2944295, nssv2944825, nssv2944244, nssv2944972, nssv2944772, nssv2944327, nssv2944264, nssv2944769, nssv2944323, nssv2944808, nssv2944891, nssv2944253, nssv2944882, nssv2944378, nssv2944779, nssv2944266, nssv2944943, nssv2944968, nssv2944864, nssv2944770, nssv2944819, nssv2944376, nssv2944356, nssv2944971, nssv2944902, nssv2944365, nssv2944255, nssv2944288, nssv2944974, nssv2944370, nssv2944854, nssv2944310, nssv2944865, nssv2944276, nssv2944238, nssv2944927, nssv2944273, nssv2944781, nssv2944780, nssv2944850, nssv2944984, nssv2944316, nssv2944932, nssv2944889, nssv2944842, nssv2944823, nssv2944813, nssv2944976, nssv2944906, nssv2944318, nssv2944895, nssv2944786, nssv2944398, nssv2944233, nssv2944258, nssv2944245, nssv2944903, nssv2944783, nssv2944338, nssv2944236, nssv2944790, nssv2944778, nssv2944333, nssv2944856, nssv2944855, nssv2944822, nssv2944335, nssv2944269, nssv2944866, nssv2944861, nssv2944899, nssv2944831, nssv2944828, nssv2944257, nssv2944985, nssv2944301, nssv2944331, nssv2944247, nssv2944975, nssv2944251, nssv2944881, nssv2944285, nssv2944991, nssv2944785, nssv2944344, nssv2944334, nssv2944329, nssv2944282, nssv2944829, nssv2944926, nssv2944816, nssv2944330, nssv2944830, nssv2944965, nssv2944879, nssv2944360, nssv2944267, nssv2944290, nssv2944893, nssv2944955, nssv2944366, nssv2944241, nssv2944796, nssv2944289, nssv2944919, nssv2944352, nssv2944252, nssv2944992, nssv2944939, nssv2944918, nssv2944782, nssv2944395, nssv2944254, nssv2944938, nssv2944878, nssv2944242, nssv2944988, nssv2944960, nssv2944799, nssv2944367, nssv2944924, nssv2944917, nssv2944958, nssv2944272, nssv2944337, nssv2944936, nssv2944397, nssv2944990, nssv2944947, nssv2944877, nssv2944386, nssv2944349, nssv2944271, nssv2944336, nssv2944869, nssv2944875, nssv2944860, nssv2944382, nssv2944849, nssv2944381, nssv2944789, nssv2944377, nssv2944262, nssv2944354, nssv2944921, nssv2944775, nssv2944347, nssv2944237, nssv2944834, nssv2944317, nssv2944900, nssv2944835, nssv2944937, nssv2944380, nssv2944870, nssv2944373, nssv2944987, nssv2944973, nssv2944929, nssv2944368, nssv2944343, nssv2944256, nssv2944941, nssv2944904, nssv2944876, nssv2944844, nssv2944383, nssv2944966, nssv2944797, nssv2944836, nssv2944977, nssv2944297, nssv2944283, nssv2944355, nssv2944909, nssv2944304, nssv2944944, nssv2944815, nssv2944908, nssv2944915, nssv2944794, nssv2944871, nssv2944303, nssv2944270, nssv2944259, nssv2944232, nssv2944907, nssv2944817, nssv2944804, nssv2944887, nssv2944312, nssv2944894, nssv2944885, nssv2944359, nssv2944954, nssv2944978, nssv2944873, nssv2944838, nssv2944916, nssv2944322, nssv2944284, nssv2944913, nssv2944826, nssv2944307, nssv2944768, nssv2944294, nssv2944912, nssv2944287, nssv2944821, nssv2944803, nssv2944798, nssv2944964, nssv2944296, nssv2944234, nssv2944931, nssv2944911, nssv2944874, nssv2944851, nssv2944841, nssv2944923, nssv2944867, nssv2944293, nssv2944248, nssv2944837, nssv2944379, nssv2944358, nssv2944291, nssv2944970, nssv2944807, nssv2944827, nssv2944353, nssv2944951, nssv2944963, nssv2944853, nssv2944957, nssv2944332, nssv2944930, nssv2944897, nssv2944890, nssv2944843, nssv2944325, nssv2944961, nssv2944281, nssv2944983, nssv2944905, nssv2944942, nssv2944883, nssv2944240, nssv2944933, nssv2944886, nssv2944268, nssv2944369, nssv2944967, nssv2944910, nssv2944920, nssv2944858, nssv2944818, nssv2944805, nssv2944979, nssv2944934, nssv2944980, nssv2944793, nssv2944306, nssv2944989, nssv2944319, nssv2944300, nssv2944387, nssv2944362, nssv2944279, nssv2944969, nssv2944962, nssv2944345, nssv2944859, nssv2944328, nssv2944231, nssv2944922, nssv2944298, nssv2944261, nssv2944888, nssv2944391, nssv2944292, nssv2944314, nssv2944791, nssv2944802, nssv2944792, nssv2944374, nssv2944350, nssv2944884, nssv2944278, nssv2944952, nssv2944250, nssv2944847, nssv2944341, nssv2944239, nssv2944315, nssv2944275, nssv2944326, nssv2944308, nssv2944839, nssv2944348, nssv2944321, nssv2944280, nssv2944277, nssv2944364, nssv2944286, nssv2944265, nssv2944309, nssv2944948, nssv2944784, nssv2944801, nssv2944863, nssv2944394, nssv2944787, nssv2944361, nssv2944848, nssv2944857, nssv2944263, nssv2944795, nssv2944776, nssv2944880, nssv2944393, nssv2944953, nssv2944777, nssv2944342, nssv2944901, nssv2944773, nssv2944820, nssv2944771, nssv2944246, nssv2944339, nssv2944950, nssv2944274, nssv2944243, nssv2944814, nssv2944372, nssv2944868, nssv2944810, nssv2944949, nssv2944946, nssv2944311, nssv2944305, nssv2944845, nssv2944809, nssv2944351, nssv2944935, nssv2944812, nssv2944956, nssv2944824, nssv2944928
SamplesNA10859, NA18503, NA12767, NA21634, NA18621, NA18870, NA19248, NA12154, NA12818, NA19127, NA12489, NA19194, NA18605, NA21438, NA07347, NA19214, NA21390, NA18594, NA19192, NA18871, NA12286, NA07349, NA19114, NA18966, NA11920, NA19209, NA12347, NA18501, NA19120, NA19178, NA10839, NA11918, NA19191, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA21718, NA18516, NA19186, NA06993, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA07348, NA12058, NA10855, NA18860, NA18994, NA07051, NA21454, NA10837, NA19257, NA21312, NA21361, NA21310, NA19180, NA19236, NA12766, NA12287, NA19151, NA18862, NA21384, NA18949, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19239, NA11839, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA18635, NA18622, NA10846, NA19107, NA18990, NA18636, NA18592, NA19096, NA12273, NA12761, NA18956, NA21513, NA10852, NA18497, NA11843, NA12329, NA11831, NA11894, NA12400, NA18637, NA11995, NA18916, NA12777, NA12234, NA21399, NA12144, NA18970, NA12751, NA19190, NA19000, NA19247, NA12239, NA12708, NA12145, NA19153, NA07346, NA12716, NA18537, NA18620, NA19189, NA07014, NA12892, NA18633, NA18572, NA19103, NA06985, NA12778, NA19206, NA21717, NA12348, NA12877, NA18498, NA21388, NA18923, NA18486, NA18968, NA19102, NA06986, NA18522, NA12275, NA18875, NA19005, NA18510, NA19119, NA21455, NA12485, NA18558, NA19098, NA10850, NA21648, NA10856, NA12872, NA19175, NA21303, NA21485, NA18978, NA18564, NA18942, NA18961, NA18925, NA18997, NA19221, NA21581, NA12283, NA18562, NA19131, NA19159, NA18910, NA18579, NA18974, NA18945, NA19141, NA18940, NA19145, NA21401, NA11832, NA21486, NA12891, NA18987, NA10851, NA12890, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA19138, NA21635, NA12272, NA21476, NA10860, NA18907, NA18911, NA19101, NA21439, NA12749, NA18995, NA06991, NA06984, NA18867, NA19193, NA21601, NA12375, NA18872, NA19128, NA12812, NA19115, NA12156, NA12386, NA06995, NA12889, NA19116, NA21389, NA10835, NA21360, NA18971, NA19097, NA10830, NA21480, NA10845, NA18577, NA19099, NA07022, NA12878, NA21362, NA11830, NA11992, NA19205, NA19225, NA10838, NA18852, NA18917, NA12399, NA12546, NA12842, NA12248, NA18499, NA18571, NA19179, NA19198, NA12817, NA19118, NA12045, NA18611, NA19095, NA10840, NA11829, NA12236, NA19130, NA19240, NA12717, NA12874, NA19204, NA18935, NA18981, NA19177, NA19249, NA06994, NA21391, NA12274, NA12832, NA19185, NA12760, NA21302, NA12335, NA18555, NA19200, NA19007, NA11917, NA19202, NA07000, NA12775, NA19121, NA10864, NA18980, NA21636, NA21494, NA07031, NA21526, NA07435, NA19142, NA19137, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA11930, NA12344, NA07037, NA21524, NA12802, NA19222, NA21580, NA18952, NA18975, NA07056, NA18874, NA19174, NA19252, NA12752, NA12875, NA18612, NA18869, NA18500, NA19149, NA21404, NA18550, NA18570, NA19003, NA21600, NA18511, NA06989, NA12340, NA21487, NA18948, NA12813, NA18972, NA19150, NA18573, NA18608, NA21403, NA21479, NA18542, NA19184, NA21386, NA18855, NA18484, NA19210, NA12776, NA11893, NA18524, NA18965, NA18488, NA12341, NA12044, NA12376, NA18873, NA19147, NA10863, NA18632, NA19117, NA11882, NA19161, NA12843, NA18998, NA18624, NA18934, NA18508, NA12056, NA18992, NA21686, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA12864, NA07357, NA12873, NA12343, NA18991, NA18930, NA12814, NA12740, NA18856, NA21359, NA07048, NA21477, NA18547, NA19182, NA12829, NA19256, NA21522, NA18973, NA12830
Known GenesCNTNAP2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514457
Frequency
Sample Size2366
Observed Gain0
Observed Loss393
Observed Complex0
Frequencyn/a


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