A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515003



Internal ID15813362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196807868..196835004hg38UCSC Ensembl
Innerchr3:196534739..196561875hg19UCSC Ensembl
Innerchr3:198019136..198046272hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3827137
hg1927137
hg1827137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2897911, nssv2897969, nssv2898271, nssv2898011, nssv2897756, nssv2897729, nssv2898309, nssv2897995, nssv2898295, nssv2897992, nssv2898337, nssv2897708, nssv2897940, nssv2897827, nssv2897951, nssv2897831, nssv2898281, nssv2898379, nssv2898017, nssv2897740, nssv2897807, nssv2897913, nssv2897878, nssv2897851, nssv2897812, nssv2897774, nssv2897968, nssv2897885, nssv2897937, nssv2898315, nssv2898322, nssv2898390, nssv2898018, nssv2897753, nssv2898008, nssv2897789, nssv2898342, nssv2898414, nssv2898297, nssv2898323, nssv2897882, nssv2898413, nssv2897897, nssv2898320, nssv2897765, nssv2897999, nssv2898400, nssv2897785, nssv2897763, nssv2897755, nssv2897817, nssv2897743, nssv2898288, nssv2897750, nssv2897833, nssv2897794, nssv2897868, nssv2897862, nssv2897975, nssv2897872, nssv2898307, nssv2898273, nssv2898025, nssv2897710, nssv2898361, nssv2898335, nssv2897778, nssv2898000, nssv2898417, nssv2897825, nssv2897767, nssv2897905, nssv2898291, nssv2897835, nssv2898019, nssv2897869, nssv2898374, nssv2898391, nssv2898290, nssv2898421, nssv2897780, nssv2897791, nssv2898367, nssv2898268, nssv2897719, nssv2898293, nssv2897962, nssv2897877, nssv2898343, nssv2897757, nssv2898386, nssv2897889, nssv2897953, nssv2898300, nssv2898329, nssv2897959, nssv2898411, nssv2898283, nssv2897928, nssv2898422, nssv2897861, nssv2897834, nssv2898003, nssv2898355, nssv2897886, nssv2898334, nssv2897898, nssv2897818, nssv2898399, nssv2898357, nssv2897804, nssv2897863, nssv2897829, nssv2898294, nssv2897939, nssv2898021, nssv2897978, nssv2897932, nssv2897960, nssv2898392, nssv2898312, nssv2897822, nssv2897746, nssv2897734, nssv2898405, nssv2898381, nssv2897987, nssv2897844, nssv2897811, nssv2897803, nssv2897961, nssv2897769, nssv2897899, nssv2897809, nssv2898282, nssv2897945, nssv2897853, nssv2897752, nssv2897904, nssv2897849, nssv2897782, nssv2898407, nssv2897764, nssv2897974, nssv2898316, nssv2898358, nssv2898022, nssv2898354, nssv2897870, nssv2897760, nssv2897876, nssv2898406, nssv2897793, nssv2897721, nssv2897816, nssv2897773, nssv2897983, nssv2897840, nssv2898366, nssv2898341, nssv2897934, nssv2897787, nssv2897924, nssv2897754, nssv2898277, nssv2897875, nssv2897852, nssv2897900, nssv2897888, nssv2897704, nssv2898279, nssv2897738, nssv2898319, nssv2897770, nssv2897703, nssv2898410, nssv2897996, nssv2898339, nssv2897943, nssv2897927, nssv2898327, nssv2898026, nssv2897958, nssv2898409, nssv2897801, nssv2898299, nssv2897805, nssv2898338, nssv2898380, nssv2898027, nssv2897949, nssv2897926, nssv2898331, nssv2898270, nssv2897918, nssv2897846, nssv2897923, nssv2897733, nssv2897903, nssv2898376, nssv2897920, nssv2897847, nssv2897781, nssv2897714, nssv2898292, nssv2897933, nssv2897881, nssv2898360, nssv2897883, nssv2897790, nssv2897762, nssv2897980, nssv2897929, nssv2898016, nssv2898013, nssv2897795, nssv2898353, nssv2898416, nssv2897988, nssv2897989, nssv2897922, nssv2898296, nssv2897955, nssv2897784, nssv2897749, nssv2897747, nssv2898324, nssv2897842, nssv2898404, nssv2898359, nssv2897797, nssv2898371, nssv2898347, nssv2897879, nssv2897751, nssv2898005, nssv2898393, nssv2897993, nssv2897938, nssv2897832, nssv2897841, nssv2898313, nssv2897891, nssv2898310, nssv2898369, nssv2898365, nssv2898012, nssv2897722, nssv2897916, nssv2897895, nssv2898326, nssv2897976, nssv2897967, nssv2897709, nssv2897799, nssv2898363, nssv2897950, nssv2897800, nssv2898330, nssv2897736, nssv2897731, nssv2897720, nssv2897730, nssv2898350, nssv2897966, nssv2898007, nssv2897982, nssv2897821, nssv2898289, nssv2898308, nssv2897892, nssv2897745, nssv2898020, nssv2898375, nssv2897713, nssv2898401, nssv2898314, nssv2898352, nssv2898301, nssv2898006, nssv2897742, nssv2898378, nssv2898377, nssv2898328, nssv2897792, nssv2897985, nssv2898014, nssv2898004, nssv2897873, nssv2897826, nssv2898398, nssv2897906, nssv2897845, nssv2897860, nssv2897977, nssv2897735, nssv2897783, nssv2897766, nssv2897705, nssv2898382, nssv2897796, nssv2897931, nssv2897823, nssv2898384, nssv2898373, nssv2897990, nssv2898009, nssv2897864, nssv2897890, nssv2897896, nssv2897824, nssv2897725, nssv2898385, nssv2898262, nssv2897837, nssv2898394, nssv2898298, nssv2898387, nssv2898364, nssv2898349, nssv2897971, nssv2897994, nssv2897914, nssv2898346, nssv2897942, nssv2897997, nssv2897866, nssv2897838, nssv2898336, nssv2898395, nssv2897998, nssv2897723, nssv2898333, nssv2898418, nssv2897724, nssv2898275, nssv2897856, nssv2897935, nssv2897954, nssv2898286, nssv2897919, nssv2898396, nssv2898389, nssv2897865, nssv2897850, nssv2897806, nssv2897776, nssv2897952, nssv2898368, nssv2897944, nssv2898423, nssv2897909, nssv2897758, nssv2897907, nssv2897871, nssv2898024, nssv2897802, nssv2897925, nssv2897777, nssv2898362, nssv2897727, nssv2898317, nssv2897786, nssv2897984, nssv2897973, nssv2897819, nssv2897910, nssv2897820, nssv2898276, nssv2897706, nssv2898403, nssv2897728, nssv2897779, nssv2898415, nssv2897854, nssv2898340, nssv2897739, nssv2898383, nssv2897712, nssv2898344, nssv2897880, nssv2897761, nssv2898302, nssv2898325, nssv2898010, nssv2898001, nssv2898305, nssv2897956, nssv2897946, nssv2898419, nssv2897828, nssv2898412, nssv2897843, nssv2898028, nssv2898267, nssv2898356, nssv2897948, nssv2897964, nssv2897979, nssv2898370, nssv2897716, nssv2897848, nssv2897941, nssv2897930, nssv2898265, nssv2897775, nssv2897771, nssv2897718, nssv2898318, nssv2898345, nssv2897814, nssv2898002, nssv2897965, nssv2897813, nssv2897908, nssv2897788, nssv2898420, nssv2898402, nssv2898015, nssv2898266, nssv2897737, nssv2898287, nssv2897981, nssv2897707, nssv2898263, nssv2897986, nssv2897830, nssv2897759, nssv2897732, nssv2898348, nssv2897936, nssv2898372, nssv2897947, nssv2897768, nssv2897798, nssv2897894, nssv2897887, nssv2897858, nssv2897748, nssv2897991, nssv2897963, nssv2897815, nssv2897810, nssv2897912, nssv2897857, nssv2898269, nssv2897970, nssv2898306, nssv2898023, nssv2897715, nssv2897901, nssv2897741, nssv2898303, nssv2897855, nssv2897744, nssv2897874, nssv2898278, nssv2898304, nssv2897726, nssv2898388, nssv2898272, nssv2897915, nssv2897717, nssv2897772, nssv2897867, nssv2898408, nssv2898274, nssv2897859, nssv2897839, nssv2897921, nssv2898311, nssv2897808, nssv2897711, nssv2898280, nssv2897836, nssv2897917, nssv2898332, nssv2898321, nssv2898351, nssv2897972, nssv2898264, nssv2897902, nssv2897884, nssv2898284, nssv2898285, nssv2898397, nssv2897957, nssv2897893
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 GenesPAK2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515003
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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