A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514927



Internal ID15466561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53023468..53024056hg38UCSC Ensembl
Innerchr1:53489140..53489728hg19UCSC Ensembl
Innerchr1:53261728..53262316hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2861724, nssv2862857, nssv2864042, nssv2866758, nssv2864172, nssv2867628, nssv2862086, nssv2864575, nssv2859147, nssv2860282, nssv2861719, nssv2863598, nssv2863664, nssv2861672, nssv2864592, nssv2865337, nssv2865695, nssv2866785, nssv2864481, nssv2863256, nssv2860467, nssv2861632, nssv2868258, nssv2864781, nssv2862858, nssv2862643, nssv2866607, nssv2862128, nssv2862173, nssv2867379, nssv2861457, nssv2862663, nssv2866292, nssv2861407, nssv2867141, nssv2859683, nssv2866374, nssv2865825, nssv2864669, nssv2866704, nssv2864186, nssv2864795, nssv2858953, nssv2864193, nssv2860888, nssv2867807, nssv2864944, nssv2863758, nssv2859636, nssv2859719, nssv2864176, nssv2863179, nssv2864038, nssv2868446, nssv2865238, nssv2863368, nssv2863872, nssv2866232, nssv2859212, nssv2860311, nssv2860796, nssv2865283, nssv2867280, nssv2863684, nssv2863938, nssv2865268, nssv2861227, nssv2862846, nssv2865969, nssv2858757, nssv2863319, nssv2862644, nssv2865412, nssv2865943, nssv2862839, nssv2864459, nssv2861205, nssv2863081, nssv2863404, nssv2861823, nssv2865342, nssv2859679, nssv2865445, nssv2859480, nssv2859704, nssv2860648, nssv2863345, nssv2859641, nssv2865544, nssv2860956, nssv2861824, nssv2864694, nssv2861878, nssv2864739, nssv2863996, nssv2862838, nssv2864658, nssv2866521, nssv2858868, nssv2866261, nssv2863116, nssv2864802, nssv2860045, nssv2860135, nssv2861366, nssv2859972, nssv2860432, nssv2867312, nssv2865379, nssv2868165, nssv2866524, nssv2862945, nssv2867953, nssv2859181, nssv2863909, nssv2866924, nssv2859935, nssv2864710, nssv2861084, nssv2863468, nssv2867710, nssv2859973, nssv2859146, nssv2863268, nssv2865038, nssv2866000, nssv2865380, nssv2858580, nssv2859846, nssv2866432, nssv2867394, nssv2861768, nssv2863900, nssv2866028, nssv2868130, nssv2868010, nssv2860164, nssv2864876, nssv2867272, nssv2859382, nssv2860060, nssv2868377, nssv2863127, nssv2868322, nssv2865525, nssv2865797, nssv2860413, nssv2864699, nssv2866156, nssv2866367, nssv2868142, nssv2865518, nssv2866366, nssv2861604, nssv2858840, nssv2866845, nssv2868319, nssv2858952, nssv2861885, nssv2867380, nssv2858566, nssv2860393, nssv2865703, nssv2860394, nssv2860523, nssv2860209, nssv2862615, nssv2864551, nssv2861469, nssv2858852, nssv2860886, nssv2864323, nssv2864609, nssv2866239, nssv2867116, nssv2864676, nssv2867322, nssv2859216, nssv2860092, nssv2866905, nssv2865264, nssv2858713, nssv2861153, nssv2859372, nssv2865798, nssv2859423, nssv2861462, nssv2863494, nssv2866400, nssv2862676, nssv2862865, nssv2867326, nssv2865662, nssv2860607, nssv2865210, nssv2861797, nssv2863355, nssv2866733, nssv2863077, nssv2865310, nssv2868434, nssv2861475, nssv2865163, nssv2860123, nssv2862662, nssv2861991, nssv2861863, nssv2859833, nssv2864201, nssv2861979, nssv2863878, nssv2863325, nssv2864539, nssv2860539, nssv2861795, nssv2861796, nssv2860409, nssv2861747, nssv2864587, nssv2868437, nssv2866500, nssv2867404, nssv2858958, nssv2861496, nssv2861645, nssv2863535, nssv2865063, nssv2860055, nssv2860618, nssv2861193, nssv2858502, nssv2860803, nssv2866495, nssv2866811, nssv2860039, nssv2861108, nssv2862952, nssv2863571, nssv2860746, nssv2866157, nssv2861343, nssv2863334, nssv2865049, nssv2860560, nssv2865367, nssv2859385, nssv2862700, nssv2864846, nssv2866499, nssv2862712, nssv2866592, nssv2864435, nssv2866772, nssv2861180, nssv2863757, nssv2858567, nssv2860232, nssv2868011, nssv2860158, nssv2862582, nssv2863638, nssv2866047, nssv2867160, nssv2861204, nssv2864686, nssv2861431, nssv2859233, nssv2864996, nssv2865105, nssv2866829, nssv2862682, nssv2862821, nssv2863785, nssv2858630, nssv2868082, nssv2859760, nssv2865378, nssv2860281, nssv2862528, nssv2860569, nssv2863255, nssv2865360, nssv2858874, nssv2860843, nssv2863854, nssv2860634, nssv2861027, nssv2864177, nssv2863861, nssv2863959, nssv2860125, nssv2868359, nssv2867017, nssv2867066, nssv2866643, nssv2860619, nssv2863612, nssv2860168, nssv2859247, nssv2867041, nssv2862845, nssv2864924, nssv2860147, nssv2863222, nssv2858639, nssv2859143, nssv2863647, nssv2865226, nssv2865912, nssv2867839, nssv2861238, nssv2866621, nssv2867832, nssv2863790, nssv2859767, nssv2861198, nssv2860857, nssv2866155, nssv2867244, nssv2868403, nssv2864497, nssv2865350, nssv2864315, nssv2860478, nssv2865297, nssv2862532, nssv2860054, nssv2864591, nssv2866531, nssv2867825, nssv2865083, nssv2863871, nssv2864286, nssv2866695, nssv2863333, nssv2866408, nssv2861402, nssv2868125, nssv2860040, nssv2864399, nssv2859509, nssv2860302, nssv2868126, nssv2863308, nssv2867573, nssv2868449, nssv2863110, nssv2864756, nssv2868281, nssv2864451, nssv2868317, nssv2867669, nssv2864370, nssv2860719, nssv2862162, nssv2864711, nssv2866043, nssv2863604, nssv2865721, nssv2863132, nssv2862061, nssv2865886, nssv2865962, nssv2863489, nssv2867211, nssv2865172, nssv2859591, nssv2864264, nssv2860345, nssv2859536, nssv2862576, nssv2868313, nssv2868172, nssv2859111, nssv2860351, nssv2865850, nssv2859520, nssv2863780, nssv2860380, nssv2862891, nssv2862466, nssv2864324, nssv2865248, nssv2867780, nssv2867045, nssv2861141, nssv2867718, nssv2866358, nssv2861915, nssv2864645, nssv2859494, nssv2862271, nssv2864106, nssv2867057, nssv2862627, nssv2862611, nssv2862969, nssv2862645, nssv2863811, nssv2863908, nssv2860922, nssv2861082, nssv2862612, nssv2863218, nssv2859859, nssv2860909, nssv2863942, nssv2858663, nssv2866248, nssv2868263, nssv2863991, nssv2868241, nssv2862882, nssv2867954, nssv2860848, nssv2862172, nssv2867691, nssv2862822, nssv2865023, nssv2866446, nssv2867016, nssv2867908, nssv2861646, nssv2866796, nssv2866830, nssv2867347, nssv2859483, nssv2863537, nssv2861981, nssv2865845, nssv2859524, nssv2867085, nssv2867217, nssv2865799, nssv2860330, nssv2866125, nssv2868468, nssv2867523, nssv2860036, nssv2867711, nssv2859700, nssv2863914, nssv2859047, nssv2859956, nssv2863971, nssv2865604, nssv2865780, nssv2860098, nssv2867845, nssv2858558, nssv2858674, nssv2860713, nssv2860141, nssv2860643, nssv2865760, nssv2859443, nssv2861294, nssv2859785, nssv2861096, nssv2864214, nssv2868312, nssv2858685, nssv2860070, nssv2865976, nssv2859386, nssv2863281, nssv2863777, nssv2864031, nssv2860647, nssv2863924, nssv2862329, nssv2861112, nssv2866713, nssv2864590, nssv2865115, nssv2865329, nssv2865395, nssv2861841, nssv2865143, nssv2859203, nssv2859288, nssv2865442, nssv2865759, nssv2868067, nssv2865535, nssv2861715, nssv2863084, nssv2864039
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 GenesSCP2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514927
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer