A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514746



Internal ID15813105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73530495..73532471hg38UCSC Ensembl
Innerchr14:73997199..73999175hg19UCSC Ensembl
Innerchr14:73066952..73068928hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381977
hg191977
hg181977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2801885, nssv2804627, nssv2801078, nssv2805499, nssv2803364, nssv2800158, nssv2800325, nssv2802521, nssv2799884, nssv2805766, nssv2801719, nssv2801613, nssv2799375, nssv2799715, nssv2799399, nssv2808343, nssv2803255, nssv2799044, nssv2807286, nssv2800207, nssv2804673, nssv2799256, nssv2806536, nssv2800454, nssv2808189, nssv2798821, nssv2803654, nssv2805399, nssv2801824, nssv2803417, nssv2799915, nssv2798798, nssv2804502, nssv2805652, nssv2807675, nssv2798739, nssv2803265, nssv2801337, nssv2805564, nssv2800101, nssv2799368, nssv2800619, nssv2808039, nssv2803444, nssv2803797, nssv2802716, nssv2799926, nssv2802533, nssv2803382, nssv2803337, nssv2799459, nssv2802237, nssv2801436, nssv2804934, nssv2807259, nssv2802655, nssv2802025, nssv2807437, nssv2803918, nssv2801565, nssv2808483, nssv2805003, nssv2803923, nssv2804932, nssv2803577, nssv2800815, nssv2805011, nssv2801718, nssv2805840, nssv2799701, nssv2802323, nssv2804432, nssv2807542, nssv2802470, nssv2801574, nssv2798813, nssv2804458, nssv2804828, nssv2803620, nssv2805922, nssv2800113, nssv2807951, nssv2805029, nssv2802819, nssv2804826, nssv2799736, nssv2806553, nssv2805963, nssv2804705, nssv2804812, nssv2807342, nssv2804077, nssv2802421, nssv2808455, nssv2806181, nssv2801393, nssv2803806, nssv2803515, nssv2801658, nssv2804062, nssv2800064, nssv2807078, nssv2801810, nssv2803684, nssv2802371, nssv2808300, nssv2800808, nssv2806331, nssv2805145, nssv2805821, nssv2798570, nssv2806647, nssv2806956, nssv2807571, nssv2800759, nssv2805442, nssv2800809, nssv2808422, nssv2800149, nssv2807335, nssv2804457, nssv2802026, nssv2803966, nssv2798988, nssv2799502, nssv2806048, nssv2804570, nssv2803651, nssv2805906, nssv2803296, nssv2808399, nssv2799842, nssv2800389, nssv2803052, nssv2800464, nssv2799215, nssv2800388, nssv2807702, nssv2804131, nssv2799439, nssv2803873, nssv2802683, nssv2806441, nssv2803945, nssv2801557, nssv2807193, nssv2804096, nssv2800112, nssv2808219, nssv2805845, nssv2803762, nssv2806522, nssv2808228, nssv2807500, nssv2803694, nssv2802318, nssv2805768, nssv2803842, nssv2801277, nssv2807754, nssv2805829, nssv2801063, nssv2804006, nssv2806422, nssv2804091, nssv2805565, nssv2803614, nssv2808302, nssv2802614, nssv2807012, nssv2805276, nssv2802464, nssv2805075, nssv2803679, nssv2804331, nssv2805826, nssv2799097, nssv2804489, nssv2806694, nssv2802534, nssv2803165, nssv2799738, nssv2808016, nssv2805546, nssv2802814, nssv2798750, nssv2801844, nssv2804257, nssv2802566, nssv2804133, nssv2801450, nssv2803574, nssv2799659, nssv2799947, nssv2803120, nssv2803951, nssv2803056, nssv2799460, nssv2803662, nssv2807051, nssv2804207, nssv2806182, nssv2804479, nssv2800688, nssv2802400, nssv2804400, nssv2802514, nssv2807184, nssv2805638, nssv2801264, nssv2802459, nssv2801030, nssv2800636, nssv2800275, nssv2798965, nssv2804604, nssv2800652, nssv2798772, nssv2807176, nssv2800212, nssv2808111, nssv2807381, nssv2805380, nssv2804088, nssv2801347, nssv2805984, nssv2799435, nssv2806589, nssv2803142, nssv2803121, nssv2801196, nssv2799843, nssv2808421, nssv2807091, nssv2804461, nssv2805350, nssv2802940, nssv2799498, nssv2798590, nssv2805155, nssv2802429, nssv2803350, nssv2800592, nssv2801998, nssv2803064, nssv2802599, nssv2801476, nssv2798903, nssv2805675, nssv2806412, nssv2805174, nssv2806713, nssv2805467, nssv2801828, nssv2805263, nssv2804125, nssv2804827, nssv2798892, nssv2799267, nssv2798687, nssv2806471, nssv2805839, nssv2803950, nssv2800787, nssv2800188, nssv2801426, nssv2807619, nssv2800081, nssv2799827, nssv2804296, nssv2800003, nssv2806400, nssv2805873, nssv2803743, nssv2800549, nssv2806624, nssv2806702, nssv2800728, nssv2805316, nssv2799990, nssv2807341, nssv2804728, nssv2805151, nssv2804641, nssv2805998, nssv2801004, nssv2804513, nssv2800421, nssv2802486, nssv2800221, nssv2804535, nssv2802221, nssv2801695, nssv2800878, nssv2799452, nssv2803440, nssv2807856, nssv2802604, nssv2807382, nssv2799816, nssv2802211, nssv2800324, nssv2806657, nssv2805786, nssv2801229, nssv2802879, nssv2804933, nssv2806833, nssv2807362, nssv2799036, nssv2799653, nssv2800682, nssv2805582, nssv2802415, nssv2798923, nssv2807818, nssv2804124, nssv2801562, nssv2804785, nssv2803756, nssv2800687, nssv2801741, nssv2798740, nssv2803465, nssv2800040, nssv2798723, nssv2802684, nssv2802503, nssv2799127, nssv2799298, nssv2799991, nssv2807285, nssv2805185, nssv2800593, nssv2799848, nssv2806904, nssv2801820, nssv2804243, nssv2799418, nssv2805389, nssv2803349, nssv2806787, nssv2804680, nssv2803545, nssv2807568, nssv2806198, nssv2804690, nssv2805295, nssv2803680, nssv2801424, nssv2806206, nssv2806818, nssv2805402, nssv2808106, nssv2807398, nssv2798915, nssv2807811, nssv2800232
SamplesNA19258, NA12717, NA21636, NA21317, NA12842, NA21524, NA21488, NA21423, NA12286, NA19204, NA18861, NA18524, NA18855, NA18935, NA12843, NA21310, NA21489, NA18925, NA18504, NA12146, NA21301, NA21360, NA21635, NA21522, NA18510, NA12750, NA19107, NA12813, NA07346, NA19127, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA12336, NA19191, NA12802, NA18923, NA18547, NA18960, NA18916, NA07048, NA21479, NA11918, NA07347, NA18582, NA18571, NA21381, NA21365, NA21391, NA19130, NA12275, NA19199, NA19123, NA12156, NA18868, NA07014, NA12044, NA11994, NA19235, NA19207, NA19172, NA10850, NA19128, NA21523, NA19239, NA10839, NA21387, NA21400, NA21344, NA18867, NA21313, NA12760, NA12752, NA19120, NA19194, NA19175, NA12878, NA19161, NA18933, NA12485, NA19184, NA18485, NA12877, NA18579, NA12718, NA18871, NA19103, NA21438, NA21366, NA18981, NA12234, NA19208, NA19202, NA18907, NA18537, NA18573, NA12818, NA11919, NA19142, NA19150, NA12386, NA12829, NA11893, NA19181, NA19151, NA18930, NA18857, NA18532, NA12145, NA19099, NA18555, NA19252, NA12144, NA18523, NA21309, NA12546, NA19012, NA21316, NA12043, NA21608, NA18632, NA06991, NA19115, NA19256, NA19149, NA19147, NA18517, NA18863, NA19140, NA12272, NA12873, NA21390, NA07348, NA21388, NA21361, NA12347, NA19117, NA18501, NA18484, NA06994, NA07435, NA19223, NA19178, NA10843, NA07349, NA19211, NA19093, NA18509, NA19185, NA19102, NA18873, NA19116, NA21384, NA18872, NA19121, NA21363, NA19129, NA11892, NA18624, NA12890, NA21487, NA12154, NA10837, NA11832, NA21403, NA18998, NA18497, NA19237, NA19141, NA19222, NA11830, NA21686, NA19186, NA21383, NA18924, NA19249, NA11995, NA11829, NA10845, NA12814, NA12236, NA21476, NA19122, NA21399, NA19145, NA18917, NA19092, NA18486, NA18545, NA21648, NA21717, NA21386, NA12248, NA12058, NA10857, NA19098, NA18870, NA12400, NA12155, NA07357, NA12812, NA19201, NA18489, NA21600, NA21526, NA19198, NA18860, NA12891, NA12348, NA19131, NA11992, NA21401, NA19197, NA12283, NA12287, NA19138, NA18498, NA06993, NA12761, NA11917, NA12282, NA12005, NA21382, NA19180, NA18874, NA12274, NA21512, NA21454, NA19137, NA21453, NA21478, NA12889, NA19159, NA21716, NA19189, NA10855, NA21601, NA21362, NA19209, NA12828, NA21634, NA18908, NA19200, NA21494, NA12748, NA11993, NA19007, NA21599, NA19247, NA19210, NA18934, NA12753, NA10836, NA10831, NA12872, NA18859, NA19205, NA19236, NA18637, NA18910, NA18503, NA19097, NA11839, NA10838, NA21485, NA19179, NA19221, NA19114, NA19118, NA07031, NA18518, NA18499, NA11894, NA10830, NA18856, NA12249, NA19113, NA12892, NA12239, NA18853, NA12264, NA12817, NA19101, NA10852, NA19257, NA12766, NA19225, NA06985, NA21583, NA19160, NA19095, NA18945, NA18576, NA21302, NA19094, NA06995, NA19206, NA12716, NA18909, NA11881, NA19108, NA18961, NA12864, NA12775, NA19174, NA21425, NA19100, NA19144, NA07051, NA21615, NA10840, NA19193, NA18869, NA07037, NA07055, NA21513, NA18911, NA06986, NA18594, NA19143, NA12708, NA12740, NA19109, NA19248, NA21580, NA21404, NA19173, NA18987, NA18994, NA10860, NA18500, NA21581, NA21614, NA21486, NA19096, NA18854, NA21455, NA21312, NA18972, NA21389, NA21303, NA18852, NA07056, NA19224, NA19146, NA18488, NA19148, NA18511, NA21514, NA21440, NA18522, NA07034, NA10864, NA19153, NA12776
Known GenesHEATR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514746
Frequency
Sample Size2366
Observed Gain358
Observed Loss0
Observed Complex0
Frequencyn/a


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