A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514846



Internal ID15466480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41578206..41585094hg38UCSC Ensembl
Innerchr17:39734458..39741346hg19UCSC Ensembl
Innerchr17:36987984..36994872hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2831168, nssv2830337, nssv2831234, nssv2831200, nssv2831172, nssv2831272, nssv2831137, nssv2830335, nssv2831281, nssv2831179, nssv2831298, nssv2832611, nssv2831131, nssv2832636, nssv2831150, nssv2831260, nssv2831312, nssv2831346, nssv2831216, nssv2831322, nssv2832641, nssv2831085, nssv2831401, nssv2831129, nssv2832608, nssv2831239, nssv2831202, nssv2832663, nssv2831412, nssv2831240, nssv2831245, nssv2831213, nssv2831384, nssv2831306, nssv2831081, nssv2832646, nssv2831303, nssv2831337, nssv2831217, nssv2831204, nssv2831078, nssv2832617, nssv2831317, nssv2831173, nssv2831362, nssv2831391, nssv2831432, nssv2832597, nssv2831430, nssv2831181, nssv2831110, nssv2831170, nssv2831215, nssv2832604, nssv2830334, nssv2831157, nssv2831261, nssv2832560, nssv2831347, nssv2832650, nssv2831310, nssv2831159, nssv2831318, nssv2831167, nssv2831403, nssv2832637, nssv2832602, nssv2831191, nssv2832643, nssv2831188, nssv2831206, nssv2831104, nssv2831435, nssv2831350, nssv2831177, nssv2831165, nssv2832659, nssv2831340, nssv2832587, nssv2832627, nssv2831290, nssv2831364, nssv2831250, nssv2831320, nssv2832590, nssv2832623, nssv2831429, nssv2832625, nssv2831294, nssv2832633, nssv2831153, nssv2832574, nssv2831268, nssv2831211, nssv2831302, nssv2832601, nssv2832638, nssv2831096, nssv2831325, nssv2831275, nssv2832581, nssv2831445, nssv2831113, nssv2831115, nssv2832605, nssv2831396, nssv2832584, nssv2832661, nssv2832655, nssv2832657, nssv2831169, nssv2831178, nssv2831099, nssv2831407, nssv2832556, nssv2831252, nssv2831084, nssv2831288, nssv2831171, nssv2831251, nssv2831247, nssv2832573, nssv2831305, nssv2832656, nssv2831256, nssv2832591, nssv2831183, nssv2831296, nssv2831431, nssv2831132, nssv2831341, nssv2831276, nssv2831335, nssv2831428, nssv2831088, nssv2831406, nssv2831224, nssv2832558, nssv2831274, nssv2832594, nssv2831424, nssv2832644, nssv2831444, nssv2831399, nssv2831427, nssv2832570, nssv2831434, nssv2831255, nssv2831345, nssv2831304, nssv2831201, nssv2832572, nssv2831184, nssv2831361, nssv2831357, nssv2831222, nssv2831236, nssv2832555, nssv2832618, nssv2831092, nssv2831209, nssv2831124, nssv2831369, nssv2831237, nssv2831410, nssv2831100, nssv2831416, nssv2831122, nssv2831107, nssv2831197, nssv2831418, nssv2831185, nssv2831223, nssv2831270, nssv2831383, nssv2831376, nssv2831220, nssv2832557, nssv2831311, nssv2831187, nssv2831395, nssv2831269, nssv2831145, nssv2831143, nssv2831147, nssv2832609, nssv2831331, nssv2831329, nssv2831229, nssv2831375, nssv2832600, nssv2832575, nssv2831438, nssv2831135, nssv2831393, nssv2831138, nssv2831283, nssv2831155, nssv2831267, nssv2831299, nssv2832580, nssv2831271, nssv2831295, nssv2831114, nssv2831123, nssv2831278, nssv2831125, nssv2831112, nssv2831098, nssv2831195, nssv2832666, nssv2831286, nssv2831293, nssv2831366, nssv2831359, nssv2831382, nssv2831228, nssv2831308, nssv2831190, nssv2831127, nssv2832576, nssv2831189, nssv2832568, nssv2832565, nssv2832647, nssv2831349, nssv2831387, nssv2831363, nssv2832607, nssv2831210, nssv2831368, nssv2831352, nssv2831141, nssv2831226, nssv2831243, nssv2831336, nssv2832635, nssv2832610, nssv2831158, nssv2831101, nssv2830338, nssv2831231, nssv2832596, nssv2832628, nssv2831373, nssv2831333, nssv2831221, nssv2831142, nssv2831371, nssv2831235, nssv2831279, nssv2832569, nssv2831180, nssv2831248, nssv2832567, nssv2831198, nssv2831263, nssv2831442, nssv2831379, nssv2831266, nssv2831415, nssv2832577, nssv2832554, nssv2831392, nssv2831149, nssv2831156, nssv2831193, nssv2831253, nssv2831388, nssv2832664, nssv2831315, nssv2831413, nssv2831087, nssv2831381, nssv2831080, nssv2832579, nssv2831097, nssv2831148, nssv2831282, nssv2831126, nssv2832603, nssv2831117, nssv2831093, nssv2831446, nssv2832630, nssv2832616, nssv2831095, nssv2831436, nssv2831301, nssv2831091, nssv2831326, nssv2832620, nssv2831144, nssv2831218, nssv2831139, nssv2832578, nssv2831319, nssv2831207, nssv2832615, nssv2831280, nssv2831186, nssv2832652, nssv2831344, nssv2832665, nssv2831307, nssv2831343, nssv2831339, nssv2831083, nssv2831316, nssv2831121, nssv2831377, nssv2831219, nssv2832639, nssv2831297, nssv2831136, nssv2831203, nssv2831264, nssv2832648, nssv2831199, nssv2831378, nssv2832561, nssv2831386, nssv2831214, nssv2831338, nssv2831405, nssv2832631, nssv2831284, nssv2832660, nssv2831390, nssv2831330, nssv2831323, nssv2831439, nssv2831249, nssv2831419, nssv2831417, nssv2831314, nssv2831273, nssv2831225, nssv2831090, nssv2832654, nssv2831130, nssv2832585, nssv2832583, nssv2832563, nssv2831160, nssv2831437, nssv2832598, nssv2831176, nssv2831233, nssv2831161, nssv2832613, nssv2831164, nssv2832642, nssv2831244, nssv2831111, nssv2831374, nssv2831285, nssv2831328, nssv2831332, nssv2832632, nssv2831194, nssv2832649, nssv2831356, nssv2831151, nssv2831292, nssv2831289, nssv2831408, nssv2832566, nssv2831342, nssv2831404, nssv2831287, nssv2831102, nssv2831309, nssv2831397, nssv2832622, nssv2831232, nssv2831443, nssv2832658, nssv2831400, nssv2831118, nssv2831313, nssv2832589, nssv2831291, nssv2831166, nssv2831324, nssv2831182, nssv2832634, nssv2832640, nssv2831365, nssv2831154, nssv2831414, nssv2832614, nssv2832626, nssv2831163, nssv2831389, nssv2831402, nssv2830339, nssv2831440, nssv2832653, nssv2831116, nssv2831372, nssv2831334, nssv2831174, nssv2831277, nssv2831360, nssv2832592, nssv2832612, nssv2831258, nssv2831259, nssv2831354, nssv2831353, nssv2831105, nssv2832586, nssv2831321, nssv2832571, nssv2831120, nssv2831370, nssv2832582, nssv2831208, nssv2831385, nssv2832588, nssv2831367, nssv2831227, nssv2831358, nssv2831079, nssv2831230, nssv2831411, nssv2831242, nssv2831134, nssv2831238, nssv2831420, nssv2832662, nssv2831109, nssv2832564, nssv2831086, nssv2832645, nssv2831351, nssv2831423, nssv2831421, nssv2831441, nssv2831422, nssv2831262, nssv2831426, nssv2832593, nssv2832629, nssv2832651, nssv2832599, nssv2832562, nssv2832606, nssv2831152, nssv2831175, nssv2832595, nssv2831094, nssv2832624, nssv2832559, nssv2831089, nssv2831265, nssv2831355, nssv2831082, nssv2831133, nssv2831394, nssv2831425, nssv2831205, nssv2831254, nssv2831398, nssv2831348, nssv2831300, nssv2831433, nssv2832621, nssv2831103, nssv2831212, nssv2831108, nssv2831409, nssv2831162, nssv2831327, nssv2831246, nssv2832619, nssv2831128, nssv2831241, nssv2831196, nssv2831119, nssv2831380, nssv2831192, nssv2831146, nssv2830336, nssv2831257, nssv2831106, nssv2831140
SamplesNA10859, NA18503, NA12767, NA19012, NA19146, NA21634, NA11881, NA18621, NA19207, NA18870, NA19248, NA12154, NA12818, NA19127, NA12489, NA19194, NA18605, NA21438, NA07347, NA21512, NA19214, NA21441, NA18509, NA21390, NA18594, NA19192, NA18871, NA12286, NA07349, NA12801, NA18523, NA19114, NA18966, NA11920, NA19209, NA21447, NA12347, NA18501, NA19093, NA19120, NA19178, NA10839, NA11918, NA19191, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA21718, NA18516, NA19186, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA19144, NA07348, NA12058, NA18507, NA10855, NA18860, NA21425, NA18994, NA07051, NA21454, NA10837, NA19257, NA21312, NA21361, NA21310, NA19180, NA19236, NA12766, NA12287, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19148, NA19239, NA11839, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA19199, NA18635, NA21488, NA18622, NA10846, NA19197, NA19107, NA18990, NA18636, NA18592, NA19096, NA21363, NA12273, NA12761, NA18956, NA21513, NA10852, NA18959, NA18609, NA18497, NA11843, NA12329, NA11831, NA18485, NA11894, NA12400, NA18637, NA11995, NA18916, NA18593, NA19181, NA12777, NA12234, NA21399, NA12144, NA12751, NA19190, NA19000, NA21442, NA19247, NA12239, NA12145, NA07346, NA12716, NA19129, NA19189, NA21525, NA18633, NA21316, NA12778, NA12348, NA12877, NA21388, NA18968, NA19102, NA12275, NA19005, NA18510, NA19119, NA21455, NA12485, NA19154, NA21382, NA10856, NA21303, NA21485, NA18978, NA11892, NA18961, NA19237, NA18925, NA10836, NA12283, NA18910, NA19141, NA18940, NA19235, NA12891, NA18987, NA12890, NA12146, NA07055, NA19138, NA12272, NA21476, NA10860, NA18909, NA19201, NA21439, NA06991, NA19193, NA19128, NA12812, NA18857, NA19115, NA12889, NA19116, NA21360, NA19123, NA19097, NA19132, NA21383, NA21480, NA10845, NA07022, NA12878, NA21362, NA11830, NA21366, NA19205, NA19225, NA18852, NA19224, NA12546, NA12248, NA18499, NA18924, NA19198, NA12045, NA10840, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA19113, NA18935, NA18981, NA21614, NA18908, NA19177, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA19202, NA07000, NA12775, NA19121, NA10864, NA18980, NA21636, NA21494, NA07031, NA21526, NA07435, NA19142, NA19137, NA19183, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA12748, NA21490, NA11930, NA12344, NA07037, NA21524, NA12802, NA19222, NA21317, NA18933, NA21580, NA18952, NA18975, NA07056, NA18874, NA19173, NA19174, NA19252, NA12752, NA12875, NA21478, NA21599, NA18612, NA18869, NA18500, NA21307, NA19149, NA21404, NA18550, NA18570, NA19003, NA21600, NA18511, NA06989, NA12340, NA21487, NA18948, NA12813, NA18969, NA18972, NA19150, NA18573, NA18608, NA21403, NA21479, NA18542, NA19184, NA21386, NA18855, NA18484, NA19210, NA12776, NA11893, NA18524, NA19108, NA18965, NA21489, NA18488, NA12341, NA12044, NA12376, NA18506, NA18873, NA19147, NA21400, NA10863, NA18632, NA19117, NA11882, NA19161, NA21309, NA12843, NA18998, NA18624, NA18934, NA18508, NA12056, NA18992, NA21686, NA12282, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA12864, NA18563, NA07357, NA12873, NA21301, NA12343, NA18991, NA18930, NA12814, NA12740, NA18856, NA21359, NA07048, NA21453, NA21477, NA18547, NA19182, NA21523, NA12829, NA19256, NA21522, NA18973, NA21608, NA12830, NA19100, NA18970, NA12708, NA19153, NA18518, NA18537, NA18620, NA19122, NA19172, NA07014, NA12892, NA18572, NA19094, NA19103, NA06985, NA19206, NA21717, NA18498, NA18923, NA18486, NA06986, NA18522, NA21514, NA18875, NA18558, NA19098, NA10850, NA21648, NA12872, NA18504, NA19175, NA21381, NA18487, NA18564, NA18942, NA18997, NA19221, NA21475, NA21581, NA18562, NA19131, NA19159, NA18579, NA18974, NA21440, NA18945, NA21313, NA19145, NA21401, NA11832, NA19258, NA21486, NA10851, NA18582, NA18999, NA10857, NA18552, NA21635, NA18907, NA18911, NA19101, NA12749, NA18995, NA21344, NA06984, NA18867, NA21601, NA12375, NA18872, NA12156, NA12386, NA06995, NA21389, NA10835, NA18971, NA10830, NA18577, NA19099, NA11992, NA10838, NA18917, NA11993, NA12399, NA12842, NA19160, NA21583, NA18571, NA19179, NA12817, NA19118, NA18611, NA19095
Known GenesKRT14
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514846
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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