A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514775



Internal ID15813134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30313721..30383419hg38UCSC Ensembl
Innerchr15:30605924..30675622hg19UCSC Ensembl
Innerchr15:28393216..28462914hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg3869699
hg1969699
hg1869699
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2817995, nssv2811634, nssv2816735, nssv2816700, nssv2813910, nssv2813512, nssv2813785, nssv2813849, nssv2816591, nssv2810434, nssv2815828, nssv2814454, nssv2811941, nssv2812200, nssv2811559, nssv2816208, nssv2814539, nssv2809367, nssv2815160, nssv2808840, nssv2815739, nssv2809101, nssv2815677, nssv2817148, nssv2816202, nssv2813575, nssv2813639, nssv2813780, nssv2809182, nssv2814100, nssv2811806, nssv2808636, nssv2816989, nssv2815344, nssv2816030, nssv2809194, nssv2818232, nssv2817372, nssv2813348, nssv2812672, nssv2811724, nssv2810848, nssv2816818, nssv2810884, nssv2817824, nssv2811817, nssv2814960, nssv2809119, nssv2817989, nssv2815552, nssv2814073, nssv2817683, nssv2813131, nssv2816785, nssv2808765, nssv2814659, nssv2810624, nssv2808620, nssv2811060, nssv2810731, nssv2816663, nssv2814895, nssv2813697, nssv2814585, nssv2809675, nssv2810854, nssv2815321, nssv2816565, nssv2816105, nssv2816747, nssv2811189, nssv2813557, nssv2809277, nssv2813342, nssv2812831, nssv2811497, nssv2811456, nssv2809433, nssv2813585, nssv2810929, nssv2810094, nssv2815487, nssv2815067, nssv2815057, nssv2808725, nssv2808692, nssv2810270, nssv2815217, nssv2811847, nssv2814512, nssv2810472, nssv2818307, nssv2810985, nssv2809366, nssv2815437, nssv2813838, nssv2810421, nssv2817813, nssv2811491, nssv2813158, nssv2811522, nssv2810553, nssv2816918, nssv2816780, nssv2816736, nssv2812321, nssv2818205, nssv2810740, nssv2809977, nssv2809796, nssv2812740, nssv2810867, nssv2813310, nssv2813395, nssv2809632, nssv2816330, nssv2814276, nssv2810614, nssv2811323, nssv2811308, nssv2814131, nssv2818070, nssv2814634, nssv2817381, nssv2809608, nssv2814115, nssv2813472, nssv2816699, nssv2810513, nssv2818314, nssv2816742, nssv2815267, nssv2814774, nssv2817614, nssv2812484, nssv2809395, nssv2811369, nssv2815995, nssv2816635, nssv2812808, nssv2808606, nssv2815451, nssv2809514, nssv2818390, nssv2810212, nssv2813246, nssv2810720, nssv2818476, nssv2816072, nssv2809495, nssv2818009, nssv2816666, nssv2816917, nssv2814586, nssv2813651, nssv2808992, nssv2808942, nssv2817742, nssv2817458, nssv2815011, nssv2814244, nssv2816559, nssv2815287, nssv2811833, nssv2815513, nssv2811789, nssv2809779, nssv2809439, nssv2816231, nssv2809424, nssv2808589, nssv2814543, nssv2809601, nssv2808585, nssv2813548, nssv2809272, nssv2818039, nssv2810475, nssv2811320, nssv2812844, nssv2809804, nssv2814427, nssv2816248, nssv2814045, nssv2810782, nssv2810294, nssv2815684, nssv2810667, nssv2813804, nssv2811739, nssv2815602, nssv2811597, nssv2817690, nssv2815427, nssv2817809, nssv2808920, nssv2816714, nssv2809332, nssv2815322, nssv2811095, nssv2809754, nssv2818058, nssv2817320, nssv2810736, nssv2813843, nssv2812017, nssv2811670, nssv2809742, nssv2816930, nssv2808503, nssv2810381, nssv2817566, nssv2808864, nssv2814473, nssv2812206, nssv2811027, nssv2809939, nssv2812910, nssv2814765, nssv2814453, nssv2811360, nssv2808600, nssv2809396, nssv2811952, nssv2811015, nssv2812738, nssv2812177, nssv2817448, nssv2809350, nssv2816160, nssv2814672, nssv2813301, nssv2812794, nssv2812566, nssv2810429, nssv2814417, nssv2811533, nssv2815325, nssv2808899, nssv2814422, nssv2808900, nssv2816874, nssv2816179, nssv2812739, nssv2810732, nssv2811592, nssv2815086, nssv2810211, nssv2808666, nssv2811686, nssv2815826, nssv2818322, nssv2812259, nssv2813012, nssv2815402, nssv2809229, nssv2811334, nssv2809833, nssv2808526, nssv2815628, nssv2815385, nssv2814338, nssv2814505, nssv2818348, nssv2817769, nssv2815172, nssv2814166, nssv2814610, nssv2814009, nssv2809449, nssv2814086, nssv2810595, nssv2809917, nssv2818206, nssv2813150, nssv2811744, nssv2818249, nssv2814355, nssv2811848, nssv2809698, nssv2817884, nssv2815271, nssv2815869, nssv2817876, nssv2814256, nssv2808584, nssv2812999, nssv2809005, nssv2813431, nssv2812345, nssv2818152, nssv2815364, nssv2817409, nssv2815061, nssv2814299, nssv2810803, nssv2815835, nssv2815743, nssv2818278, nssv2810531, nssv2810114, nssv2816933, nssv2816409, nssv2816740, nssv2816936, nssv2818102, nssv2809687, nssv2813642, nssv2814027, nssv2810482, nssv2809580, nssv2809121, nssv2815693, nssv2815124, nssv2808810, nssv2811820, nssv2816316, nssv2812837, nssv2812436, nssv2816494, nssv2808566, nssv2811565, nssv2817875, nssv2808785, nssv2810809, nssv2811386, nssv2810191, nssv2808977, nssv2818305, nssv2818267, nssv2815635, nssv2816360, nssv2809923, nssv2813649, nssv2811161, nssv2818372, nssv2812437, nssv2814782, nssv2812901, nssv2809045, nssv2818231, nssv2810668, nssv2809714, nssv2809516, nssv2817639, nssv2811474, nssv2816065, nssv2812883, nssv2809058, nssv2814713, nssv2810541, nssv2813082, nssv2808956, nssv2816812, nssv2816121, nssv2809619, nssv2814478, nssv2816534, nssv2818384, nssv2809162, nssv2815567, nssv2816052, nssv2809472, nssv2812252, nssv2810134, nssv2808766, nssv2816647, nssv2808905, nssv2815961, nssv2812080, nssv2817605, nssv2813622, nssv2810496, nssv2815272, nssv2814589, nssv2815190, nssv2810796
SamplesNA12383, NA19258, NA12717, NA21636, NA21317, NA12842, NA21524, NA21488, NA18621, NA18947, NA12286, NA19204, NA18862, NA18861, NA18508, NA10851, NA18524, NA12414, NA18855, NA12344, NA18999, NA12751, NA21489, NA18925, NA18504, NA12340, NA12146, NA21475, NA21301, NA21360, NA12832, NA18633, NA21522, NA18510, NA12750, NA12399, NA18969, NA19107, NA07346, NA18563, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA18995, NA12336, NA19191, NA12802, NA18923, NA18558, NA18547, NA07048, NA21479, NA11918, NA07347, NA18571, NA21493, NA21365, NA21391, NA19130, NA18949, NA11930, NA19199, NA19123, NA12156, NA18868, NA07014, NA12044, NA19235, NA19207, NA19172, NA10850, NA19128, NA18966, NA21523, NA19239, NA10839, NA21387, NA21400, NA21344, NA18867, NA12777, NA21307, NA18605, NA12760, NA12489, NA12752, NA19120, NA07022, NA19194, NA19175, NA19161, NA18933, NA12485, NA18485, NA12877, NA18579, NA12718, NA19103, NA18572, NA18948, NA21438, NA21366, NA18981, NA12234, NA18907, NA18537, NA18573, NA11919, NA19150, NA12386, NA18875, NA11893, NA19151, NA11840, NA12056, NA19154, NA18857, NA18532, NA06989, NA12145, NA18555, NA19252, NA12144, NA12778, NA10856, NA18570, NA21309, NA12546, NA19012, NA21316, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA19115, NA19149, NA19147, NA18517, NA18863, NA18564, NA12873, NA21718, NA21390, NA07348, NA21388, NA21361, NA12347, NA19182, NA18501, NA18484, NA06994, NA07435, NA19223, NA19178, NA10843, NA07349, NA19211, NA19093, NA18636, NA18509, NA12329, NA19185, NA18609, NA18873, NA11843, NA21384, NA19121, NA21363, NA19129, NA11892, NA18968, NA18624, NA12890, NA21487, NA18612, NA19214, NA18487, NA11832, NA18620, NA18997, NA18998, NA19237, NA19141, NA19222, NA11830, NA21686, NA21477, NA21383, NA18924, NA19249, NA11995, NA11829, NA10845, NA12814, NA12767, NA18980, NA12236, NA19122, NA18507, NA19145, NA18603, NA12045, NA19092, NA18545, NA21648, NA12004, NA21717, NA21386, NA12248, NA12058, NA10857, NA19190, NA19098, NA12400, NA12155, NA07357, NA12341, NA18967, NA18550, NA12812, NA18489, NA21526, NA18635, NA19198, NA18860, NA12891, NA12348, NA18942, NA11992, NA21401, NA19197, NA12287, NA18964, NA06993, NA12761, NA11917, NA12282, NA12005, NA21447, NA18970, NA07019, NA19180, NA18874, NA06984, NA21454, NA19137, NA21525, NA21453, NA12889, NA19159, NA21716, NA19189, NA10855, NA21362, NA19209, NA21442, NA18975, NA18908, NA18973, NA19200, NA21494, NA12748, NA11993, NA10847, NA21599, NA21480, NA12335, NA19210, NA12753, NA10863, NA10831, NA12872, NA18956, NA18859, NA19205, NA18991, NA19236, NA18637, NA12376, NA18503, NA11839, NA10838, NA21485, NA19179, NA18566, NA21441, NA19114, NA19118, NA07031, NA18518, NA18499, NA18856, NA12249, NA12892, NA12239, NA18853, NA12827, NA19101, NA10852, NA12766, NA19225, NA06985, NA21583, NA19160, NA19095, NA18945, NA21302, NA18608, NA19094, NA18978, NA06995, NA11882, NA19206, NA19183, NA12716, NA19108, NA18961, NA18952, NA12864, NA12775, NA10859, NA19240, NA19174, NA21425, NA19100, NA19144, NA07051, NA18992, NA10840, NA19193, NA18869, NA12874, NA07037, NA21513, NA18911, NA06986, NA18594, NA19143, NA12708, NA12740, NA19248, NA18971, NA21404, NA19173, NA18987, NA18994, NA18500, NA12830, NA18506, NA21581, NA21486, NA18854, NA21455, NA18972, NA18552, NA21389, NA21303, NA21490, NA07056, NA19224, NA18488, NA18511, NA07000, NA21514, NA21440, NA18522, NA07034, NA10864, NA18622, NA18562, NA12776, NA18965
Known GenesCHRFAM7A
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514775
Frequency
Sample Size2366
Observed Gain361
Observed Loss16
Observed Complex0
Frequencyn/a


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