A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514424



Internal ID15812835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55218513..55222617hg38UCSC Ensembl
Innerchr7:55286206..55290310hg19UCSC Ensembl
Innerchr7:55253700..55257804hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg384105
hg194105
hg184105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2949002, nssv2949059, nssv2949517, nssv2949530, nssv2949023, nssv2949053, nssv2948909, nssv2948868, nssv2949075, nssv2948900, nssv2949025, nssv2948993, nssv2948876, nssv2948967, nssv2949082, nssv2948975, nssv2949050, nssv2949094, nssv2948875, nssv2948987, nssv2949557, nssv2949001, nssv2949008, nssv2948983, nssv2949564, nssv2949015, nssv2948910, nssv2949103, nssv2949558, nssv2948989, nssv2948865, nssv2949003, nssv2948915, nssv2949539, nssv2949106, nssv2948919, nssv2949541, nssv2949000, nssv2949090, nssv2948959, nssv2949516, nssv2949071, nssv2949065, nssv2948932, nssv2949105, nssv2949511, nssv2948923, nssv2949566, nssv2949509, nssv2948889, nssv2949035, nssv2949076, nssv2948920, nssv2948981, nssv2948917, nssv2948974, nssv2949523, nssv2949512, nssv2948953, nssv2949081, nssv2949041, nssv2949544, nssv2949047, nssv2949068, nssv2948928, nssv2948883, nssv2948969, nssv2948997, nssv2949551, nssv2949526, nssv2948980, nssv2948964, nssv2949070, nssv2949522, nssv2948870, nssv2949060, nssv2948888, nssv2948898, nssv2948948, nssv2948950, nssv2948878, nssv2949092, nssv2949510, nssv2948916, nssv2949031, nssv2948937, nssv2948954, nssv2949110, nssv2949066, nssv2949037, nssv2949013, nssv2949518, nssv2949527, nssv2949056, nssv2949537, nssv2949515, nssv2949567, nssv2949093, nssv2949513, nssv2949088, nssv2948903, nssv2949084, nssv2949086, nssv2949524, nssv2949540, nssv2949062, nssv2948907, nssv2949078, nssv2949007, nssv2949111, nssv2948891, nssv2948882, nssv2949543, nssv2949049, nssv2948991, nssv2948895, nssv2948965, nssv2949044, nssv2948933, nssv2948871, nssv2948939, nssv2949009, nssv2949030, nssv2948977, nssv2949010, nssv2948945, nssv2949045, nssv2948927, nssv2949548, nssv2949533, nssv2949033, nssv2948924, nssv2949525, nssv2949529, nssv2948884, nssv2949005, nssv2949519, nssv2948931, nssv2948912, nssv2948887, nssv2948879, nssv2948881, nssv2949102, nssv2948994, nssv2948934, nssv2948992, nssv2949058, nssv2949549, nssv2948902, nssv2949553, nssv2949514, nssv2949077, nssv2949089, nssv2948940, nssv2948918, nssv2948936, nssv2948872, nssv2948955, nssv2948908, nssv2948885, nssv2949096, nssv2949547, nssv2949083, nssv2949067, nssv2949020, nssv2948971, nssv2948880, nssv2948930, nssv2949022, nssv2949080, nssv2948976, nssv2948966, nssv2949113, nssv2949027, nssv2948947, nssv2949561, nssv2949018, nssv2949052, nssv2948990, nssv2949055, nssv2948984, nssv2948996, nssv2948968, nssv2949556, nssv2949085, nssv2949012, nssv2948942, nssv2948893, nssv2948892, nssv2948886, nssv2949061, nssv2948962, nssv2949104, nssv2948972, nssv2948986, nssv2948952, nssv2948864, nssv2948929, nssv2949034, nssv2949559, nssv2948944, nssv2948925, nssv2948978, nssv2949098, nssv2948906, nssv2948897, nssv2948877, nssv2949063, nssv2949046, nssv2949087, nssv2949069, nssv2949520, nssv2949554, nssv2948946, nssv2948869, nssv2949043, nssv2949091, nssv2949550, nssv2949114, nssv2949073, nssv2949531, nssv2948958, nssv2948899, nssv2949560, nssv2949538, nssv2949006, nssv2948901, nssv2949036, nssv2948963, nssv2948985, nssv2948874, nssv2948979, nssv2948998, nssv2949534, nssv2948941, nssv2949545, nssv2949051, nssv2948914, nssv2949521, nssv2949563, nssv2949040, nssv2949101, nssv2949064, nssv2949029, nssv2949039, nssv2948943, nssv2949535, nssv2948961, nssv2948935, nssv2949014, nssv2948949, nssv2949048, nssv2949028, nssv2949032, nssv2948970, nssv2949057, nssv2948873, nssv2948926, nssv2949095, nssv2949542, nssv2948922, nssv2949528, nssv2948999, nssv2948913, nssv2948894, nssv2949054, nssv2948921, nssv2949019, nssv2949552, nssv2948866, nssv2948951, nssv2949555, nssv2949004, nssv2949021, nssv2948957, nssv2949112, nssv2949074, nssv2948956, nssv2948982, nssv2948905, nssv2949546, nssv2949011, nssv2949100, nssv2949017, nssv2949565, nssv2948973, nssv2948960, nssv2949097, nssv2949072, nssv2948995, nssv2948904, nssv2949038, nssv2949532, nssv2949108, nssv2948911, nssv2949016, nssv2949109, nssv2949107, nssv2948988, nssv2948896, nssv2949536, nssv2948938, nssv2949562, nssv2948867, nssv2949099, nssv2949026, nssv2948890, nssv2949024, nssv2949079, nssv2949042
SamplesNA12383, NA12717, NA21317, NA12842, NA21524, NA21488, NA21423, NA18947, NA12286, NA19204, NA18862, NA18861, NA18508, NA10851, NA18524, NA12414, NA18855, NA18935, NA11920, NA12344, NA21310, NA18999, NA21489, NA18925, NA12801, NA18504, NA12340, NA12146, NA18959, NA21475, NA21301, NA21360, NA21635, NA18633, NA18510, NA12750, NA12399, NA18969, NA19107, NA12813, NA07346, NA18563, NA19127, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA21359, NA18995, NA12336, NA19191, NA12802, NA18923, NA18558, NA18916, NA18571, NA21493, NA21381, NA21365, NA21391, NA18949, NA12275, NA19123, NA12156, NA18868, NA12044, NA19172, NA19128, NA21523, NA21387, NA21400, NA21344, NA12777, NA18605, NA19120, NA19194, NA19175, NA19184, NA18485, NA19103, NA18572, NA18948, NA21438, NA21366, NA18981, NA19208, NA19177, NA19142, NA19150, NA12386, NA18875, NA11893, NA19151, NA11840, NA18930, NA12056, NA19154, NA18857, NA18532, NA06989, NA18555, NA18523, NA19132, NA12778, NA10856, NA18593, NA19012, NA21316, NA18953, NA19003, NA06991, NA19115, NA19256, NA19149, NA18517, NA18863, NA18564, NA19140, NA21718, NA21390, NA21388, NA21361, NA19182, NA19117, NA18501, NA18484, NA19223, NA19178, NA10843, NA19211, NA19093, NA18636, NA18509, NA19102, NA18873, NA12875, NA11843, NA21384, NA18872, NA19121, NA21363, NA19129, NA11892, NA18968, NA12890, NA21487, NA19214, NA18577, NA21403, NA18998, NA18497, NA19237, NA19141, NA21686, NA21477, NA21383, NA18924, NA19249, NA11829, NA12814, NA18980, NA21476, NA19122, NA18507, NA19145, NA18917, NA18603, NA12045, NA19092, NA18486, NA18545, NA21648, NA12004, NA21717, NA12248, NA12058, NA10857, NA19190, NA19098, NA18870, NA07357, NA12341, NA18550, NA12812, NA19201, NA18489, NA21600, NA18635, NA19198, NA12891, NA19131, NA18942, NA12283, NA12287, NA19138, NA18964, NA06993, NA18611, NA12761, NA12282, NA12005, NA21447, NA21382, NA07019, NA19180, NA18874, NA12274, NA06984, NA21512, NA21454, NA19137, NA21453, NA21716, NA19189, NA21601, NA19209, NA21634, NA18975, NA18908, NA12375, NA19200, NA21494, NA12748, NA19007, NA10847, NA21599, NA21480, NA19247, NA10836, NA19152, NA12872, NA18859, NA19205, NA18516, NA21439, NA18637, NA18910, NA19097, NA21485, NA19179, NA19221, NA19114, NA19000, NA07031, NA18518, NA18499, NA18856, NA12249, NA12892, NA12817, NA19101, NA10852, NA19225, NA21583, NA19160, NA18945, NA18576, NA21302, NA18608, NA06995, NA11882, NA19183, NA18909, NA19108, NA18961, NA18952, NA10859, NA19240, NA19174, NA21425, NA19144, NA07051, NA18992, NA21615, NA19193, NA12874, NA21513, NA18911, NA06986, NA12740, NA19109, NA19248, NA18971, NA21580, NA21404, NA18994, NA10860, NA18500, NA18506, NA21581, NA21486, NA19096, NA18854, NA21455, NA21312, NA18972, NA18552, NA21389, NA21490, NA18852, NA19224, NA19146, NA18488, NA19148, NA21514, NA18522, NA19153, NA18562
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514424
Frequency
Sample Size2366
Observed Gain276
Observed Loss34
Observed Complex0
Frequencyn/a


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