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 Variantsnssv2859509, nssv2863604, nssv2860209, nssv2863355, nssv2866500, nssv2863494, nssv2868125, nssv2859719, nssv2866374, nssv2865604, nssv2867322, nssv2863758, nssv2863404, nssv2860040, nssv2858580, nssv2867628, nssv2866531, nssv2859524, nssv2860886, nssv2865780, nssv2864039, nssv2863861, nssv2861153, nssv2865105, nssv2862329, nssv2864031, nssv2863996, nssv2863255, nssv2862643, nssv2868263, nssv2865850, nssv2864201, nssv2859386, nssv2863368, nssv2862858, nssv2860569, nssv2867832, nssv2865798, nssv2864042, nssv2860643, nssv2858674, nssv2858713, nssv2866905, nssv2865912, nssv2865264, nssv2863684, nssv2866695, nssv2866358, nssv2861227, nssv2860045, nssv2866495, nssv2864924, nssv2860409, nssv2860619, nssv2861863, nssv2864481, nssv2859760, nssv2867954, nssv2860413, nssv2867845, nssv2860843, nssv2859494, nssv2858663, nssv2859520, nssv2858502, nssv2859846, nssv2864996, nssv2865268, nssv2861084, nssv2863854, nssv2864264, nssv2861204, nssv2861180, nssv2867379, nssv2861457, nssv2863909, nssv2866499, nssv2867573, nssv2861981, nssv2861885, nssv2864323, nssv2861646, nssv2864038, nssv2860158, nssv2865023, nssv2863938, nssv2860302, nssv2862532, nssv2865115, nssv2866400, nssv2864399, nssv2861205, nssv2862882, nssv2868172, nssv2862612, nssv2861193, nssv2860055, nssv2866043, nssv2867160, nssv2860125, nssv2863790, nssv2860168, nssv2861715, nssv2862676, nssv2866239, nssv2862838, nssv2860123, nssv2863871, nssv2866758, nssv2868322, nssv2861475, nssv2863638, nssv2861198, nssv2865210, nssv2863218, nssv2861724, nssv2860147, nssv2859288, nssv2863785, nssv2858868, nssv2860164, nssv2858953, nssv2861141, nssv2864286, nssv2863924, nssv2861796, nssv2865412, nssv2862466, nssv2867041, nssv2866796, nssv2862662, nssv2861824, nssv2861402, nssv2860713, nssv2863308, nssv2863535, nssv2863256, nssv2866292, nssv2865721, nssv2868313, nssv2861496, nssv2862969, nssv2868437, nssv2868359, nssv2864876, nssv2858558, nssv2867669, nssv2865759, nssv2860648, nssv2863222, nssv2860330, nssv2865525, nssv2868142, nssv2864315, nssv2866000, nssv2865886, nssv2868449, nssv2867380, nssv2863268, nssv2863811, nssv2865962, nssv2861366, nssv2864694, nssv2859382, nssv2861294, nssv2860467, nssv2859111, nssv2866704, nssv2866524, nssv2867141, nssv2859972, nssv2863991, nssv2868010, nssv2864686, nssv2860036, nssv2864587, nssv2866772, nssv2860618, nssv2865943, nssv2864106, nssv2868082, nssv2859143, nssv2865283, nssv2864497, nssv2864739, nssv2861343, nssv2860956, nssv2860054, nssv2863872, nssv2862700, nssv2862644, nssv2862128, nssv2864435, nssv2860746, nssv2858757, nssv2866248, nssv2868281, nssv2860478, nssv2866047, nssv2866261, nssv2865038, nssv2860647, nssv2863971, nssv2862952, nssv2868130, nssv2866845, nssv2865695, nssv2865442, nssv2861878, nssv2859859, nssv2861719, nssv2865379, nssv2859767, nssv2861027, nssv2866408, nssv2861797, nssv2861462, nssv2868377, nssv2862846, nssv2860092, nssv2865662, nssv2867908, nssv2867312, nssv2863942, nssv2867217, nssv2867839, nssv2865083, nssv2859247, nssv2864551, nssv2860888, nssv2864699, nssv2859212, nssv2864756, nssv2864172, nssv2863900, nssv2860539, nssv2863110, nssv2861082, nssv2861672, nssv2867710, nssv2866521, nssv2863333, nssv2861991, nssv2859704, nssv2868434, nssv2863780, nssv2868317, nssv2865049, nssv2865163, nssv2859536, nssv2866713, nssv2858685, nssv2863281, nssv2860922, nssv2860351, nssv2867326, nssv2866125, nssv2859216, nssv2859203, nssv2858874, nssv2867825, nssv2865297, nssv2861469, nssv2862172, nssv2864669, nssv2859935, nssv2860141, nssv2862576, nssv2860432, nssv2865378, nssv2861096, nssv2866733, nssv2861112, nssv2867045, nssv2861747, nssv2864609, nssv2863468, nssv2865845, nssv2863598, nssv2865248, nssv2860719, nssv2862162, nssv2865238, nssv2860523, nssv2868446, nssv2860281, nssv2860282, nssv2861108, nssv2864781, nssv2861604, nssv2860394, nssv2862845, nssv2859181, nssv2862528, nssv2859147, nssv2865518, nssv2863116, nssv2860098, nssv2865760, nssv2868165, nssv2865703, nssv2862712, nssv2863908, nssv2864451, nssv2863914, nssv2859833, nssv2864676, nssv2865799, nssv2864802, nssv2862627, nssv2861979, nssv2868126, nssv2865143, nssv2863537, nssv2862663, nssv2859785, nssv2867116, nssv2862582, nssv2862271, nssv2868468, nssv2862086, nssv2863757, nssv2864176, nssv2864590, nssv2859480, nssv2860070, nssv2868067, nssv2867244, nssv2860393, nssv2865367, nssv2866157, nssv2862611, nssv2859423, nssv2863127, nssv2863489, nssv2863132, nssv2863084, nssv2859636, nssv2859385, nssv2861768, nssv2860232, nssv2859683, nssv2867057, nssv2866592, nssv2860560, nssv2863081, nssv2863077, nssv2858952, nssv2866155, nssv2867711, nssv2864591, nssv2863664, nssv2862682, nssv2863878, nssv2858852, nssv2862615, nssv2860060, nssv2865797, nssv2861632, nssv2860380, nssv2865380, nssv2862173, nssv2867211, nssv2865445, nssv2860135, nssv2864324, nssv2858567, nssv2859591, nssv2867953, nssv2866811, nssv2865535, nssv2859483, nssv2864592, nssv2859233, nssv2861407, nssv2864459, nssv2861238, nssv2860848, nssv2864177, nssv2861795, nssv2867780, nssv2867404, nssv2865337, nssv2865544, nssv2860607, nssv2862891, nssv2865329, nssv2864710, nssv2867394, nssv2859641, nssv2866156, nssv2863325, nssv2864645, nssv2863179, nssv2861823, nssv2868403, nssv2866643, nssv2860803, nssv2863777, nssv2859973, nssv2866785, nssv2867807, nssv2866830, nssv2867272, nssv2867017, nssv2866829, nssv2863334, nssv2868258, nssv2862061, nssv2865969, nssv2863647, nssv2865825, nssv2858639, nssv2864658, nssv2867066, nssv2865226, nssv2864944, nssv2866621, nssv2859700, nssv2860857, nssv2858566, nssv2864846, nssv2866028, nssv2866367, nssv2860796, nssv2861431, nssv2865976, nssv2862839, nssv2862857, nssv2868241, nssv2862821, nssv2862822, nssv2862945, nssv2865360, nssv2865342, nssv2860345, nssv2860634, nssv2864711, nssv2861645, nssv2861841, nssv2868319, nssv2866366, nssv2860909, nssv2864795, nssv2864575, nssv2867085, nssv2866607, nssv2864539, nssv2862645, nssv2865310, nssv2867523, nssv2868312, nssv2859679, nssv2867016, nssv2863959, nssv2867718, nssv2866232, nssv2866446, nssv2865063, nssv2864214, nssv2859047, nssv2864186, nssv2859956, nssv2867347, nssv2866924, nssv2858630, nssv2863571, nssv2867280, nssv2861915, nssv2859372, nssv2859443, nssv2868011, nssv2858958, nssv2867691, nssv2863319, nssv2858840, nssv2863612, nssv2864370, nssv2865172, nssv2860311, nssv2865350, nssv2863345, nssv2859146, nssv2865395, nssv2864193, nssv2860039, nssv2862865, nssv2866432
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 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