A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514677



Internal ID15813036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8218812..8226529hg38UCSC Ensembl
Innerchr12:8371408..8379125hg19UCSC Ensembl
Innerchr12:8262675..8270392hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387718
hg197718
hg187718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2788998, nssv2798392, nssv2790700, nssv2789051, nssv2797178, nssv2796371, nssv2788884, nssv2794636, nssv2798242, nssv2795159, nssv2794238, nssv2796031, nssv2795133, nssv2788819, nssv2789133, nssv2792606, nssv2790699, nssv2793877, nssv2797702, nssv2794844, nssv2793178, nssv2793960, nssv2793252, nssv2796829, nssv2798006, nssv2795443, nssv2794923, nssv2790961, nssv2789248, nssv2791401, nssv2791037, nssv2789374, nssv2789761, nssv2795469, nssv2792543, nssv2789579, nssv2791286, nssv2796931, nssv2793124, nssv2788851, nssv2793094, nssv2798491, nssv2791437, nssv2798221, nssv2795268, nssv2796643, nssv2792101, nssv2790050, nssv2788665, nssv2797882, nssv2791123, nssv2797113, nssv2791438, nssv2797518, nssv2792852, nssv2796530, nssv2792588, nssv2790949, nssv2790589, nssv2796328, nssv2797953, nssv2795889, nssv2793639, nssv2798197, nssv2791463, nssv2797707, nssv2789987, nssv2794288, nssv2793712, nssv2797559, nssv2793049, nssv2795524, nssv2797520, nssv2795123, nssv2796552, nssv2798152, nssv2791450, nssv2793135, nssv2797682, nssv2795955, nssv2793906, nssv2792307, nssv2795491, nssv2798424, nssv2797121, nssv2790062, nssv2790028, nssv2795975, nssv2796650, nssv2792540, nssv2795777, nssv2798089, nssv2795328, nssv2795744, nssv2795977, nssv2788777, nssv2789603, nssv2789001, nssv2791702, nssv2789715, nssv2795510, nssv2797089, nssv2796642, nssv2792977, nssv2789574, nssv2795668, nssv2791083, nssv2797271, nssv2796900, nssv2794401, nssv2790205, nssv2789359, nssv2789152, nssv2789097, nssv2796451, nssv2797609, nssv2789096, nssv2793391, nssv2789060, nssv2793009, nssv2795896, nssv2795200, nssv2790669, nssv2789916, nssv2797503, nssv2797136, nssv2795714, nssv2795604, nssv2796269, nssv2790111, nssv2789240, nssv2797350, nssv2795728, nssv2792450, nssv2793815, nssv2789349, nssv2794037, nssv2793658, nssv2791255, nssv2793533, nssv2793492, nssv2795570, nssv2791650, nssv2789227, nssv2789277, nssv2792554, nssv2792715, nssv2794941, nssv2797969, nssv2791236, nssv2789017, nssv2788669, nssv2793847, nssv2795895, nssv2790498, nssv2797950, nssv2791088, nssv2797101, nssv2793682, nssv2795028, nssv2797995, nssv2789814, nssv2798001, nssv2790953, nssv2795220, nssv2791392, nssv2793292, nssv2792421, nssv2792176, nssv2792641, nssv2792054, nssv2798168, nssv2797709, nssv2792351, nssv2795188, nssv2790964, nssv2791577, nssv2795395, nssv2791953, nssv2790851, nssv2798067, nssv2791080, nssv2789934, nssv2794480, nssv2798202, nssv2792846, nssv2796582, nssv2794906, nssv2794713, nssv2790686, nssv2796179, nssv2793102, nssv2794410, nssv2791151, nssv2792783, nssv2791516, nssv2793813, nssv2792241, nssv2789209, nssv2792171, nssv2795454, nssv2793322, nssv2796420, nssv2796717, nssv2794505, nssv2794053, nssv2789657, nssv2789448, nssv2793444, nssv2793635, nssv2797502, nssv2794831, nssv2792546, nssv2789288, nssv2795856, nssv2795679, nssv2789165, nssv2796627, nssv2789890, nssv2793491, nssv2794608, nssv2789933, nssv2797579, nssv2792177, nssv2798301, nssv2789830, nssv2790586, nssv2797541, nssv2797386, nssv2791941, nssv2790101, nssv2789580, nssv2793385, nssv2797012, nssv2795774, nssv2795561, nssv2789311, nssv2791784, nssv2794820, nssv2798381, nssv2792145, nssv2792100, nssv2791778, nssv2798207, nssv2794022, nssv2793808, nssv2791410, nssv2790255, nssv2789113, nssv2796141, nssv2793678, nssv2790276, nssv2797954, nssv2792529, nssv2797872, nssv2794830, nssv2790668, nssv2797463, nssv2788805, nssv2792965, nssv2791411, nssv2797147, nssv2788740, nssv2792003, nssv2789362, nssv2795577, nssv2791436, nssv2795205, nssv2791038, nssv2795741, nssv2794979, nssv2792121, nssv2795274, nssv2790535, nssv2795173, nssv2794442, nssv2789366, nssv2797459, nssv2794000, nssv2795109, nssv2793484, nssv2789474, nssv2794240, nssv2794087, nssv2796989, nssv2788751, nssv2793222, nssv2796264, nssv2789470, nssv2791993, nssv2796840, nssv2798449, nssv2795153, nssv2793497, nssv2797769, nssv2796568, nssv2790959, nssv2793138, nssv2797239, nssv2796492, nssv2788674, nssv2789570, nssv2789125, nssv2792167, nssv2797487, nssv2792156, nssv2792778, nssv2797268, nssv2791906, nssv2792831, nssv2793443, nssv2796883, nssv2797223, nssv2791721, nssv2791273, nssv2794839, nssv2794108, nssv2792947, nssv2792710, nssv2793544, nssv2790579, nssv2796823, nssv2797385, nssv2792558, nssv2791077, nssv2792942, nssv2788782, nssv2792246, nssv2789249, nssv2796282, nssv2791981, nssv2797951, nssv2797875, nssv2793568, nssv2790518, nssv2796285, nssv2790180, nssv2794761, nssv2789018, nssv2788503, nssv2788580, nssv2789643, nssv2793066, nssv2793423, nssv2792486, nssv2798239, nssv2795071, nssv2788697, nssv2790560, nssv2789786, nssv2789120, nssv2790675, nssv2792315, nssv2795506, nssv2792267, nssv2795824, nssv2790085, nssv2794833, nssv2793277, nssv2792549, nssv2794249, nssv2796625, nssv2793047, nssv2796243, nssv2790994, nssv2789631, nssv2792868, nssv2788499, nssv2789195, nssv2790477, nssv2792639, nssv2789773, nssv2788585, nssv2792314, nssv2792137, nssv2795403, nssv2788704, nssv2790594, nssv2798130, nssv2791283, nssv2798031, nssv2789174, nssv2796736, nssv2791853, nssv2791507, nssv2789752, nssv2794787, nssv2791976, nssv2792704, nssv2789756, nssv2789795, nssv2797504, nssv2792604, nssv2792043, nssv2794545, nssv2789013, nssv2796319, nssv2791677, nssv2797750, nssv2794076, nssv2792457, nssv2795438, nssv2791146, nssv2789964, nssv2795398, nssv2797740, nssv2797869, nssv2796599, nssv2798393, nssv2788804, nssv2796557, nssv2791533, nssv2796338, nssv2789476, nssv2790249, nssv2798346, nssv2792329, nssv2794692, nssv2791118, nssv2789513, nssv2797782, nssv2795163, nssv2797830, nssv2789921, nssv2788822, nssv2791843, nssv2789829, nssv2793934, nssv2790345, nssv2793985, nssv2796455, nssv2798314, nssv2793850, nssv2792091, nssv2795107, nssv2792801, nssv2789302, nssv2797716, nssv2793790, nssv2793045, nssv2796039, nssv2791098, nssv2791440, nssv2793783, nssv2789156, nssv2797883, nssv2790139, nssv2789846, nssv2797531, nssv2796656, nssv2790176, nssv2795267, nssv2797302, nssv2791019, nssv2789783, nssv2789797, nssv2796165, nssv2792506, nssv2792264, nssv2797017, nssv2798309, nssv2796260, nssv2792297, nssv2790149, nssv2794780, nssv2794848, nssv2793291, nssv2797930, nssv2792256, nssv2792393, nssv2795165, nssv2790761, nssv2789851, nssv2791808, nssv2794013, nssv2797328, nssv2794194, nssv2796671, nssv2794476, nssv2793878, nssv2792943, nssv2797901, nssv2794567, nssv2795020, nssv2791714, nssv2796207, nssv2796894, nssv2789624
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 GenesFAM90A1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514677
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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