A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514706



Internal ID15813065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:62742010..63022038hg38UCSC Ensembl
Innerchr13:63316143..63596171hg19UCSC Ensembl
Innerchr13:62214144..62494172hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38280029
hg19280029
hg18280029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2793874, nssv2797481, nssv2796071, nssv2795151, nssv2797186, nssv2792374, nssv2796402, nssv2801764, nssv2807107, nssv2803500, nssv2788529, nssv2795499, nssv2796519, nssv2793516, nssv2790089, nssv2794308, nssv2793550, nssv2792093, nssv2806099, nssv2792250, nssv2790322, nssv2800853, nssv2796584, nssv2799680, nssv2794950, nssv2791049, nssv2789835, nssv2806114, nssv2795177, nssv2796877, nssv2790087, nssv2800993, nssv2788832, nssv2795102, nssv2793190, nssv2796662, nssv2790992, nssv2797922, nssv2797850, nssv2795104, nssv2794799, nssv2792802, nssv2800147, nssv2793650, nssv2798135, nssv2792905, nssv2790076, nssv2796645, nssv2808174, nssv2796539, nssv2792018, nssv2805508, nssv2806359, nssv2794534, nssv2793656, nssv2798674, nssv2797278, nssv2793592, nssv2794314, nssv2788690, nssv2792319, nssv2792244, nssv2791745, nssv2806445, nssv2790025, nssv2798234, nssv2794117, nssv2790922, nssv2797217, nssv2790892, nssv2794509, nssv2789289, nssv2797400, nssv2806434, nssv2792723, nssv2803388, nssv2790881, nssv2807351, nssv2789105, nssv2790309, nssv2803153, nssv2792542, nssv2801395, nssv2793388, nssv2792443, nssv2790764, nssv2797152, nssv2807685, nssv2796305, nssv2794148, nssv2805656, nssv2788627, nssv2789149, nssv2797601, nssv2793415, nssv2795677, nssv2794689, nssv2793539, nssv2788883, nssv2796244, nssv2807365, nssv2795904, nssv2790278, nssv2791850, nssv2794175, nssv2790224, nssv2807092, nssv2796121, nssv2789794, nssv2807808, nssv2800996, nssv2807738, nssv2802083, nssv2797573, nssv2788664, nssv2796932, nssv2793341, nssv2796629, nssv2802181, nssv2796767, nssv2790817, nssv2794457, nssv2794339, nssv2790735, nssv2791718, nssv2789412, nssv2789040, nssv2794872, nssv2806480, nssv2803231, nssv2802557, nssv2792424, nssv2792180, nssv2792125, nssv2794528, nssv2797176, nssv2788574, nssv2798099, nssv2793766, nssv2792741, nssv2793666, nssv2793422, nssv2795884, nssv2800131, nssv2789768, nssv2789972, nssv2797007, nssv2790592, nssv2793701, nssv2789592, nssv2801677, nssv2790682, nssv2797153, nssv2798311, nssv2796648, nssv2789049, nssv2797852, nssv2792151, nssv2794969, nssv2804986, nssv2795233, nssv2791787, nssv2789870, nssv2789620, nssv2791780, nssv2795954, nssv2794823, nssv2792612, nssv2797880, nssv2788680, nssv2795243, nssv2797800, nssv2805776, nssv2802296, nssv2800641, nssv2793657, nssv2792036, nssv2792299, nssv2797932, nssv2795730, nssv2802720, nssv2791217, nssv2788537, nssv2789772, nssv2794271, nssv2796836, nssv2788988, nssv2790017, nssv2797712, nssv2789610, nssv2789913, nssv2808161, nssv2805351, nssv2807476, nssv2795170, nssv2794462, nssv2794006, nssv2792787, nssv2788977, nssv2794225, nssv2797735, nssv2803051, nssv2790145, nssv2792234, nssv2795938, nssv2791250, nssv2797467, nssv2793863, nssv2795592, nssv2791719, nssv2793210, nssv2795552, nssv2790361, nssv2788742, nssv2797970, nssv2790221, nssv2807534, nssv2796689, nssv2795455, nssv2790462, nssv2795115, nssv2799871, nssv2794434, nssv2793103, nssv2794485, nssv2790630, nssv2799897, nssv2792909, nssv2789219, nssv2795761, nssv2803757, nssv2796028, nssv2791849, nssv2790837, nssv2794688, nssv2791597, nssv2795445, nssv2789451, nssv2794894, nssv2788970, nssv2799741, nssv2798073, nssv2798574, nssv2804542, nssv2792447, nssv2796890, nssv2794762, nssv2790417, nssv2795439, nssv2795617, nssv2800154, nssv2796321, nssv2796746, nssv2791834, nssv2789378, nssv2807007, nssv2796423, nssv2795480, nssv2789223, nssv2792548, nssv2792488, nssv2791524, nssv2793260, nssv2793076, nssv2789344, nssv2793421, nssv2802946, nssv2806170, nssv2792660, nssv2792235, nssv2797632, nssv2792950, nssv2802876, nssv2801579, nssv2794935, nssv2789078, nssv2803579, nssv2797018, nssv2797015, nssv2789199, nssv2797006, nssv2794403, nssv2788786, nssv2806543, nssv2807413, nssv2795567, nssv2798540, nssv2795993, nssv2795581, nssv2794165, nssv2797648, nssv2796042, nssv2796129, nssv2792706, nssv2790574, nssv2794571, nssv2804691, nssv2801382, nssv2797175, nssv2793520, nssv2790469, nssv2790330, nssv2799642, nssv2793620, nssv2790824, nssv2803176, nssv2788596, nssv2789551, nssv2795155, nssv2804376, nssv2792594, nssv2794659, nssv2798982, nssv2791085, nssv2790524, nssv2796229, nssv2808131, nssv2805109, nssv2797791, nssv2801831, nssv2794647, nssv2792525, nssv2788823, nssv2797631, nssv2794003, nssv2789573, nssv2802209, nssv2796810, nssv2792259, nssv2797061, nssv2795251, nssv2795351, nssv2798003, nssv2789438, nssv2806389, nssv2789484, nssv2797536, nssv2794478, nssv2793862, nssv2806636, nssv2796520, nssv2805898, nssv2794798, nssv2789860, nssv2788929, nssv2798369, nssv2796735, nssv2798320, nssv2793570, nssv2790549, nssv2804536, nssv2798486, nssv2801338, nssv2791652, nssv2795519, nssv2792463, nssv2795568, nssv2791725, nssv2794511, nssv2791321, nssv2798184, nssv2807899, nssv2798440, nssv2797388, nssv2788810, nssv2792117, nssv2807982, nssv2797158, nssv2793633, nssv2796374, nssv2805460, nssv2795732, nssv2796149, nssv2794866, nssv2806029, nssv2795285, nssv2790608, nssv2789003, nssv2793276, nssv2789718, nssv2789951, nssv2799454, nssv2792790, nssv2788738, nssv2795103, nssv2796622, nssv2789550, nssv2795800, nssv2797480, nssv2797273, nssv2795161, nssv2807825, nssv2791935, nssv2791024, nssv2798781, nssv2795755, nssv2794610, nssv2794091, nssv2800600, nssv2791858, nssv2791419, nssv2788916, nssv2794324, nssv2791282, nssv2790472, nssv2790406, nssv2792729, nssv2792320, nssv2788964, nssv2795146, nssv2789832, nssv2788610, nssv2796013, nssv2791643, nssv2804363, nssv2789665, nssv2793359, nssv2790846, nssv2789584, nssv2796531, nssv2795290, nssv2794770, nssv2790658, nssv2792389, nssv2792847, nssv2793163, nssv2794348, nssv2795359, nssv2796355, nssv2793511, nssv2790372, nssv2792111, nssv2808200, nssv2799808, nssv2797506, nssv2789973, nssv2802531, nssv2803647, nssv2790711, nssv2804228, nssv2796343, nssv2788937, nssv2788609, nssv2797339, nssv2789166, nssv2792928, nssv2796099, nssv2794139, nssv2794083, nssv2796058, nssv2791996, nssv2792082, nssv2790978, nssv2798120, nssv2789619, nssv2798225, nssv2797422, nssv2796793, nssv2793920, nssv2788681, nssv2794880, nssv2794572, nssv2790657, nssv2793383, nssv2788826, nssv2789568, nssv2804267, nssv2794011, nssv2795541, nssv2790756, nssv2796887, nssv2801478, nssv2791432, nssv2796162, nssv2790193, nssv2807008, nssv2796485, nssv2790364, nssv2796610, nssv2804079, nssv2801245, nssv2795338, nssv2795304, nssv2792044, nssv2789338, nssv2791196, nssv2789254, nssv2795695
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 Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514706
Frequency
Sample Size2366
Observed Gain0
Observed Loss488
Observed Complex0
Frequencyn/a


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