A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514918



Internal ID15466552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207525360..207570240hg38UCSC Ensembl
Innerchr1:207698705..207743585hg19UCSC Ensembl
Innerchr1:205765328..205810208hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3844881
hg1944881
hg1844881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2854858, nssv2855551, nssv2855693, nssv2855586, nssv2853606, nssv2855757, nssv2855616, nssv2854838, nssv2854748, nssv2854888, nssv2855667, nssv2855765, nssv2854827, nssv2853616, nssv2855719, nssv2855531, nssv2853610, nssv2855574, nssv2855709, nssv2855607, nssv2855696, nssv2855581, nssv2854808, nssv2855624, nssv2855692, nssv2855577, nssv2854840, nssv2855611, nssv2854749, nssv2854806, nssv2854766, nssv2855549, nssv2854849, nssv2855749, nssv2855730, nssv2855744, nssv2854882, nssv2853597, nssv2854811, nssv2855552, nssv2854845, nssv2855519, nssv2853612, nssv2853659, nssv2853635, nssv2854819, nssv2855686, nssv2854746, nssv2855559, nssv2855656, nssv2855679, nssv2854757, nssv2854762, nssv2854815, nssv2853652, nssv2855723, nssv2854814, nssv2854829, nssv2853595, nssv2855635, nssv2855729, nssv2855604, nssv2855751, nssv2854895, nssv2854835, nssv2855731, nssv2854818, nssv2855560, nssv2853593, nssv2855714, nssv2854875, nssv2855548, nssv2853607, nssv2855593, nssv2854856, nssv2854744, nssv2854769, nssv2855553, nssv2855746, nssv2855701, nssv2855579, nssv2855550, nssv2855619, nssv2854854, nssv2855748, nssv2855602, nssv2855770, nssv2855682, nssv2855733, nssv2855678, nssv2855649, nssv2854865, nssv2855564, nssv2855710, nssv2855601, nssv2855591, nssv2853647, nssv2855617, nssv2855598, nssv2855646, nssv2855697, nssv2855706, nssv2855634, nssv2854756, nssv2855638, nssv2855688, nssv2855506, nssv2854767, nssv2855603, nssv2854778, nssv2854884, nssv2855768, nssv2854795, nssv2855736, nssv2854889, nssv2855628, nssv2854864, nssv2853657, nssv2853640, nssv2855760, nssv2853602, nssv2855627, nssv2853638, nssv2855675, nssv2854783, nssv2855513, nssv2854789, nssv2855512, nssv2855618, nssv2853615, nssv2855509, nssv2854759, nssv2853618, nssv2855740, nssv2853611, nssv2855665, nssv2855595, nssv2854821, nssv2854844, nssv2855539, nssv2855661, nssv2854870, nssv2854776, nssv2854825, nssv2855763, nssv2855653, nssv2855703, nssv2855524, nssv2853614, nssv2855672, nssv2855655, nssv2854786, nssv2855761, nssv2854822, nssv2853605, nssv2855523, nssv2854853, nssv2854824, nssv2854781, nssv2855650, nssv2854877, nssv2853653, nssv2854879, nssv2855724, nssv2854850, nssv2855633, nssv2855546, nssv2853637, nssv2855623, nssv2855737, nssv2854813, nssv2855756, nssv2854852, nssv2853645, nssv2853625, nssv2855585, nssv2855605, nssv2855659, nssv2854843, nssv2854883, nssv2855772, nssv2855660, nssv2855532, nssv2854770, nssv2853622, nssv2855612, nssv2853628, nssv2854859, nssv2854860, nssv2854830, nssv2854791, nssv2855651, nssv2855587, nssv2854866, nssv2855570, nssv2854834, nssv2855510, nssv2855691, nssv2855625, nssv2855609, nssv2855584, nssv2853594, nssv2855715, nssv2855670, nssv2853619, nssv2854812, nssv2855722, nssv2855759, nssv2855695, nssv2854754, nssv2854828, nssv2853599, nssv2855535, nssv2855694, nssv2855708, nssv2855652, nssv2855690, nssv2855657, nssv2855576, nssv2855521, nssv2855580, nssv2854755, nssv2854793, nssv2855762, nssv2854785, nssv2855712, nssv2854772, nssv2854847, nssv2854891, nssv2855613, nssv2854894, nssv2855596, nssv2854780, nssv2854805, nssv2854801, nssv2854794, nssv2855669, nssv2855615, nssv2855677, nssv2855684, nssv2854782, nssv2855711, nssv2853660, nssv2855689, nssv2855698, nssv2854833, nssv2855573, nssv2853644, nssv2854841, nssv2855583, nssv2855769, nssv2854792, nssv2855764, nssv2855541, nssv2855515, nssv2855533, nssv2853634, nssv2855508, nssv2855526, nssv2853649, nssv2854817, nssv2854784, nssv2853658, nssv2854851, nssv2853630, nssv2855745, nssv2855520, nssv2855716, nssv2854802, nssv2854796, nssv2855571, nssv2855739, nssv2855673, nssv2855771, nssv2854892, nssv2855566, nssv2854800, nssv2855525, nssv2855557, nssv2855753, nssv2855620, nssv2854826, nssv2854773, nssv2855578, nssv2854842, nssv2854797, nssv2854751, nssv2854832, nssv2854763, nssv2855747, nssv2855704, nssv2855545, nssv2854820, nssv2855639, nssv2855743, nssv2854831, nssv2854771, nssv2853620, nssv2855599, nssv2854809, nssv2853631, nssv2855631, nssv2855766, nssv2854761, nssv2855720, nssv2853626, nssv2855654, nssv2853642, nssv2854863, nssv2854758, nssv2853643, nssv2853651, nssv2854798, nssv2855544, nssv2854873, nssv2855518, nssv2855750, nssv2854804, nssv2854803, nssv2855666, nssv2854855, nssv2855514, nssv2854823, nssv2854867, nssv2854848, nssv2853639, nssv2855575, nssv2854886, nssv2855752, nssv2855662, nssv2855537, nssv2855647, nssv2855707, nssv2855742, nssv2855507, nssv2853656, nssv2855563, nssv2854862, nssv2855755, nssv2854774, nssv2855522, nssv2855600, nssv2855592, nssv2854768, nssv2855727, nssv2854777, nssv2854775, nssv2853608, nssv2854887, nssv2854885, nssv2855529, nssv2854861, nssv2855643, nssv2854743, nssv2855699, nssv2855735, nssv2853655, nssv2855569, nssv2855668, nssv2855758, nssv2855572, nssv2854880, nssv2853632, nssv2855674, nssv2855648, nssv2854799, nssv2854872, nssv2855702, nssv2855527, nssv2855594, nssv2855632, nssv2854747, nssv2855511, nssv2854816, nssv2853646, nssv2855685, nssv2855636, nssv2854857, nssv2854765, nssv2855717, nssv2855721, nssv2853624, nssv2855741, nssv2855606, nssv2853641, nssv2855671, nssv2855562, nssv2855622, nssv2854779, nssv2855554, nssv2853598, nssv2855637, nssv2855590, nssv2855642, nssv2855516, nssv2855726, nssv2855738, nssv2855700, nssv2854876, nssv2854753, nssv2855534, nssv2853629, nssv2855536, nssv2854807, nssv2854750, nssv2853601, nssv2855767, nssv2853596, nssv2855732, nssv2855597, nssv2855588, nssv2853603, nssv2855681, nssv2853609, nssv2854764, nssv2855555, nssv2855565, nssv2855556, nssv2855644, nssv2855683, nssv2854760, nssv2855728, nssv2854869, nssv2853627, nssv2855538, nssv2854752, nssv2854846, nssv2855517, nssv2853623, nssv2854788, nssv2855558, nssv2855629, nssv2855621, nssv2855658, nssv2855645, nssv2855589, nssv2855718, nssv2854868, nssv2855734, nssv2853650, nssv2853621, nssv2855687, nssv2854893, nssv2855705, nssv2854787, nssv2854871, nssv2854745, nssv2854874, nssv2854837, nssv2855608, nssv2855725, nssv2855614, nssv2854890, nssv2854839, nssv2855561, nssv2855640, nssv2855547, nssv2855530, nssv2855754, nssv2853636, nssv2855676, nssv2855663, nssv2855543, nssv2855582, nssv2855540, nssv2855567, nssv2855641, nssv2855713, nssv2854878, nssv2854836, nssv2853654, nssv2853600, nssv2854810, nssv2853648, nssv2853633, nssv2855542, nssv2855630, nssv2855680, nssv2855626, nssv2855528, nssv2855610, nssv2853604, nssv2854881, nssv2855664, nssv2853617, nssv2853613, nssv2855568, nssv2854790
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 GenesCR1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514918
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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