A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514913



Internal ID15466547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152212884..152214676hg38UCSC Ensembl
Innerchr1:152185360..152187152hg19UCSC Ensembl
Innerchr1:150451984..150453776hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381793
hg191793
hg181793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2849753, nssv2850882, nssv2849700, nssv2850914, nssv2849785, nssv2851000, nssv2849841, nssv2849779, nssv2850998, nssv2849727, nssv2849872, nssv2849650, nssv2849828, nssv2849827, nssv2849750, nssv2849846, nssv2849615, nssv2849854, nssv2851008, nssv2850956, nssv2849685, nssv2849671, nssv2849824, nssv2850954, nssv2849910, nssv2849664, nssv2850891, nssv2849797, nssv2850910, nssv2849877, nssv2850919, nssv2851036, nssv2850989, nssv2849794, nssv2849697, nssv2850982, nssv2849798, nssv2850948, nssv2849628, nssv2850965, nssv2850959, nssv2849816, nssv2850971, nssv2849907, nssv2849768, nssv2849680, nssv2849803, nssv2850907, nssv2850908, nssv2849660, nssv2850985, nssv2849918, nssv2849808, nssv2850976, nssv2851003, nssv2849738, nssv2851021, nssv2849756, nssv2849683, nssv2850938, nssv2849747, nssv2850935, nssv2849793, nssv2849852, nssv2849719, nssv2850981, nssv2849777, nssv2849755, nssv2851043, nssv2849873, nssv2849911, nssv2849784, nssv2849769, nssv2850980, nssv2850918, nssv2850900, nssv2849888, nssv2850883, nssv2849773, nssv2849631, nssv2849831, nssv2849710, nssv2849635, nssv2849765, nssv2849654, nssv2849853, nssv2849845, nssv2849695, nssv2849657, nssv2849632, nssv2849813, nssv2850888, nssv2849850, nssv2849804, nssv2849898, nssv2849814, nssv2849896, nssv2849818, nssv2851031, nssv2849761, nssv2849767, nssv2849890, nssv2850912, nssv2849914, nssv2849643, nssv2849819, nssv2849817, nssv2849885, nssv2850953, nssv2850983, nssv2849909, nssv2849837, nssv2849709, nssv2850923, nssv2849866, nssv2850946, nssv2849696, nssv2849714, nssv2849614, nssv2850964, nssv2849833, nssv2849693, nssv2849800, nssv2850890, nssv2850896, nssv2850933, nssv2851007, nssv2849760, nssv2849729, nssv2849718, nssv2850906, nssv2850999, nssv2851038, nssv2849633, nssv2849677, nssv2849879, nssv2849715, nssv2849684, nssv2850968, nssv2849787, nssv2850947, nssv2849848, nssv2849725, nssv2849889, nssv2849790, nssv2849807, nssv2850993, nssv2850949, nssv2850967, nssv2849795, nssv2851027, nssv2849707, nssv2849917, nssv2850880, nssv2849792, nssv2849851, nssv2849686, nssv2849895, nssv2849822, nssv2849668, nssv2850973, nssv2849666, nssv2850940, nssv2849602, nssv2849646, nssv2849844, nssv2850942, nssv2849626, nssv2851040, nssv2849665, nssv2850958, nssv2849616, nssv2851028, nssv2849722, nssv2849856, nssv2849857, nssv2849689, nssv2851006, nssv2849637, nssv2849721, nssv2849811, nssv2851030, nssv2851025, nssv2850893, nssv2850922, nssv2849692, nssv2849913, nssv2849713, nssv2849882, nssv2849782, nssv2849674, nssv2849835, nssv2851024, nssv2849902, nssv2849843, nssv2849763, nssv2849900, nssv2849876, nssv2850988, nssv2849776, nssv2849691, nssv2849770, nssv2849716, nssv2850972, nssv2849703, nssv2850962, nssv2849791, nssv2849820, nssv2849865, nssv2849783, nssv2849712, nssv2849887, nssv2851013, nssv2849687, nssv2851042, nssv2849860, nssv2849607, nssv2849802, nssv2849752, nssv2850927, nssv2849764, nssv2849621, nssv2849921, nssv2849648, nssv2849788, nssv2849619, nssv2850932, nssv2849786, nssv2849617, nssv2851020, nssv2849639, nssv2851034, nssv2849892, nssv2850899, nssv2850951, nssv2849653, nssv2850884, nssv2851010, nssv2849903, nssv2849749, nssv2849775, nssv2851039, nssv2849625, nssv2850960, nssv2849717, nssv2850909, nssv2849662, nssv2851023, nssv2849864, nssv2850920, nssv2849669, nssv2849834, nssv2849859, nssv2849636, nssv2849905, nssv2850926, nssv2850886, nssv2851011, nssv2849667, nssv2851019, nssv2849699, nssv2849781, nssv2851026, nssv2850994, nssv2849754, nssv2851035, nssv2849651, nssv2849884, nssv2849663, nssv2850879, nssv2850903, nssv2849881, nssv2849656, nssv2850987, nssv2850975, nssv2849897, nssv2849732, nssv2850952, nssv2850924, nssv2850915, nssv2850898, nssv2849606, nssv2849706, nssv2850937, nssv2850991, nssv2849862, nssv2849912, nssv2849736, nssv2850990, nssv2849641, nssv2849730, nssv2850917, nssv2849630, nssv2851018, nssv2849661, nssv2850984, nssv2850995, nssv2850928, nssv2849742, nssv2850902, nssv2849830, nssv2849624, nssv2851032, nssv2849605, nssv2849704, nssv2849678, nssv2849774, nssv2849690, nssv2849682, nssv2849771, nssv2851022, nssv2849675, nssv2850931, nssv2849758, nssv2849741, nssv2849799, nssv2849672, nssv2850936, nssv2849920, nssv2850997, nssv2850881, nssv2849861, nssv2849805, nssv2849893, nssv2849734, nssv2850887, nssv2850996, nssv2849899, nssv2850913, nssv2849891, nssv2849823, nssv2850901, nssv2849743, nssv2849609, nssv2849740, nssv2851029, nssv2850978, nssv2849673, nssv2849735, nssv2849886, nssv2849815, nssv2849620, nssv2849676, nssv2850992, nssv2850904, nssv2851004, nssv2849702, nssv2849670, nssv2849705, nssv2851014, nssv2850911, nssv2851041, nssv2850941, nssv2849627, nssv2851033, nssv2849796, nssv2849863, nssv2850974, nssv2849842, nssv2849622, nssv2850957, nssv2849806, nssv2849894, nssv2849855, nssv2849759, nssv2849809, nssv2849652, nssv2849883, nssv2849762, nssv2849737, nssv2849701, nssv2850945, nssv2849867, nssv2849836, nssv2850969, nssv2849780, nssv2849901, nssv2850925, nssv2850892, nssv2849679, nssv2849869, nssv2849868, nssv2849623, nssv2850885, nssv2850961, nssv2849875, nssv2849644, nssv2850963, nssv2849810, nssv2849858, nssv2850929, nssv2849731, nssv2849612, nssv2849870, nssv2851012, nssv2849757, nssv2849746, nssv2849745, nssv2850876, nssv2849878, nssv2849658, nssv2849634, nssv2849618, nssv2849789, nssv2849613, nssv2849694, nssv2850979, nssv2850930, nssv2850977, nssv2849838, nssv2849608, nssv2851017, nssv2849919, nssv2849647, nssv2849698, nssv2850943, nssv2850955, nssv2849681, nssv2849688, nssv2849659, nssv2850939, nssv2849708, nssv2850889, nssv2849908, nssv2849840, nssv2849916, nssv2850970, nssv2849906, nssv2849728, nssv2849640, nssv2849629, nssv2850950, nssv2850944, nssv2850895, nssv2849603, nssv2850934, nssv2851015, nssv2849649, nssv2849604, nssv2850878, nssv2849825, nssv2849766, nssv2849645, nssv2849871, nssv2850877, nssv2849711, nssv2850905, nssv2850986, nssv2849642, nssv2850966, nssv2849874, nssv2851002, nssv2851005, nssv2851001, nssv2849751, nssv2850897, nssv2849826, nssv2849847, nssv2849724, nssv2849748, nssv2849655, nssv2850921, nssv2849849, nssv2849832, nssv2849772, nssv2849744, nssv2849880, nssv2849821, nssv2849726, nssv2849839, nssv2851009, nssv2849915, nssv2849829, nssv2849638, nssv2850894, nssv2849812, nssv2849733, nssv2849723, nssv2849611, nssv2849801, nssv2849720, nssv2849778, nssv2849739, nssv2851037, nssv2851016, nssv2849610, nssv2849904, nssv2850916
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 GenesHRNR
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514913
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