A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515100



Internal ID15466734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7384005..7545660hg38UCSC Ensembl
Innerchr8:7241527..7403182hg19UCSC Ensembl
Innerchr8:7228937..7390592hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161656
hg19161656
hg18161656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2967592, nssv2967548, nssv2967690, nssv2963267, nssv2967788, nssv2964448, nssv2967575, nssv2967615, nssv2964469, nssv2964498, nssv2964482, nssv2967606, nssv2967670, nssv2964506, nssv2967582, nssv2963232, nssv2967550, nssv2964462, nssv2967649, nssv2967658, nssv2964452, nssv2967696, nssv2967704, nssv2964428, nssv2967734, nssv2967574, nssv2964443, nssv2967661, nssv2964479, nssv2967714, nssv2963265, nssv2963255, nssv2964493, nssv2963273, nssv2963289, nssv2964529, nssv2967632, nssv2964467, nssv2967781, nssv2967662, nssv2967726, nssv2964515, nssv2967701, nssv2964480, nssv2964549, nssv2967655, nssv2967733, nssv2967539, nssv2967641, nssv2967692, nssv2967624, nssv2964454, nssv2964403, nssv2967561, nssv2963251, nssv2967603, nssv2963277, nssv2964442, nssv2967612, nssv2964489, nssv2967675, nssv2967710, nssv2963261, nssv2964474, nssv2964524, nssv2967685, nssv2963260, nssv2964401, nssv2964516, nssv2967705, nssv2964527, nssv2964437, nssv2964449, nssv2967571, nssv2967628, nssv2967727, nssv2964550, nssv2967569, nssv2967785, nssv2963278, nssv2964431, nssv2967538, nssv2967650, nssv2967663, nssv2964434, nssv2967599, nssv2967724, nssv2964468, nssv2964472, nssv2964540, nssv2967634, nssv2963290, nssv2967765, nssv2964446, nssv2963230, nssv2967674, nssv2963228, nssv2964416, nssv2964447, nssv2964522, nssv2967545, nssv2967607, nssv2963280, nssv2967780, nssv2964414, nssv2967730, nssv2964436, nssv2964470, nssv2967653, nssv2964490, nssv2964424, nssv2963256, nssv2964451, nssv2967570, nssv2967619, nssv2967610, nssv2967732, nssv2964409, nssv2967573, nssv2967556, nssv2963282, nssv2967676, nssv2967763, nssv2967708, nssv2967722, nssv2967583, nssv2963287, nssv2963283, nssv2967718, nssv2967584, nssv2964541, nssv2967645, nssv2967555, nssv2967590, nssv2964459, nssv2964497, nssv2964425, nssv2967598, nssv2967635, nssv2963224, nssv2967601, nssv2967702, nssv2967735, nssv2964543, nssv2967605, nssv2967749, nssv2967790, nssv2964458, nssv2967723, nssv2967657, nssv2964422, nssv2967596, nssv2967668, nssv2967656, nssv2967589, nssv2967717, nssv2967604, nssv2963238, nssv2964534, nssv2967769, nssv2967682, nssv2967566, nssv2967693, nssv2967577, nssv2967725, nssv2963243, nssv2967687, nssv2964435, nssv2967737, nssv2964439, nssv2967739, nssv2963253, nssv2964545, nssv2967608, nssv2967562, nssv2967591, nssv2964532, nssv2967666, nssv2967744, nssv2964405, nssv2964455, nssv2967621, nssv2967719, nssv2964519, nssv2967631, nssv2967759, nssv2963285, nssv2967681, nssv2963227, nssv2963229, nssv2967542, nssv2967618, nssv2963259, nssv2967625, nssv2967638, nssv2967660, nssv2967775, nssv2967581, nssv2963286, nssv2967706, nssv2967683, nssv2967686, nssv2967695, nssv2967752, nssv2964444, nssv2967559, nssv2967720, nssv2967587, nssv2963257, nssv2964473, nssv2967758, nssv2963233, nssv2964526, nssv2967703, nssv2964514, nssv2967745, nssv2964487, nssv2967731, nssv2964438, nssv2964510, nssv2967536, nssv2964528, nssv2967553, nssv2963268, nssv2964450, nssv2964481, nssv2964483, nssv2967547, nssv2964456, nssv2964466, nssv2967671, nssv2967728, nssv2967755, nssv2963250, nssv2964461, nssv2967563, nssv2967578, nssv2967698, nssv2964508, nssv2967557, nssv2967640, nssv2963270, nssv2964432, nssv2964475, nssv2964445, nssv2967595, nssv2967773, nssv2967614, nssv2963240, nssv2967633, nssv2967713, nssv2964492, nssv2964521, nssv2967678, nssv2967689, nssv2967617, nssv2967629, nssv2963279, nssv2967543, nssv2964530, nssv2964535, nssv2964500, nssv2964511, nssv2967642, nssv2967774, nssv2964542, nssv2967712, nssv2967748, nssv2964423, nssv2967679, nssv2967558, nssv2967659, nssv2967772, nssv2964491, nssv2967688, nssv2964453, nssv2963264, nssv2963226, nssv2964523, nssv2967770, nssv2967729, nssv2967767, nssv2964505, nssv2967664, nssv2967754, nssv2964440, nssv2967535, nssv2967544, nssv2967680, nssv2963231, nssv2963246, nssv2967588, nssv2964533, nssv2967700, nssv2967646, nssv2964430, nssv2967677, nssv2967639, nssv2964426, nssv2967741, nssv2963234, nssv2963254, nssv2964411, nssv2964404, nssv2967778, nssv2964495, nssv2967684, nssv2964507, nssv2967546, nssv2964420, nssv2964465, nssv2967541, nssv2963258, nssv2963266, nssv2967540, nssv2963281, nssv2963249, nssv2963236, nssv2967636, nssv2963225, nssv2964441, nssv2967736, nssv2964464, nssv2967554, nssv2967715, nssv2964406, nssv2967609, nssv2963237, nssv2967594, nssv2964552, nssv2967576, nssv2967743, nssv2963235, nssv2967622, nssv2967776, nssv2967757, nssv2963252, nssv2967786, nssv2967551, nssv2963241, nssv2964546, nssv2964460, nssv2967616, nssv2964421, nssv2964513, nssv2964433, nssv2967672, nssv2967691, nssv2964478, nssv2964499, nssv2967579, nssv2967652, nssv2964544, nssv2967637, nssv2964539, nssv2963245, nssv2964410, nssv2963262, nssv2967602, nssv2963247, nssv2963242, nssv2964494, nssv2967746, nssv2964402, nssv2967611, nssv2967740, nssv2967768, nssv2964486, nssv2964503, nssv2964457, nssv2967762, nssv2963274, nssv2964399, nssv2964531, nssv2967568, nssv2967766, nssv2964501, nssv2964536, nssv2964509, nssv2964551, nssv2967756, nssv2967751, nssv2964488, nssv2964413, nssv2967623, nssv2963284, nssv2967709, nssv2967742, nssv2963276, nssv2967560, nssv2967651, nssv2964547, nssv2967716, nssv2967669, nssv2967783, nssv2967667, nssv2967549, nssv2967564, nssv2967738, nssv2964407, nssv2964477, nssv2967761, nssv2967789, nssv2967565, nssv2967620, nssv2964502, nssv2964517, nssv2967586, nssv2967593, nssv2967787, nssv2963275, nssv2964429, nssv2967707, nssv2964538, nssv2967673, nssv2963271, nssv2964504, nssv2967697, nssv2967580, nssv2963288, nssv2964512, nssv2967665, nssv2967777, nssv2963291, nssv2967760, nssv2964417, nssv2967694, nssv2967627, nssv2967630, nssv2964471, nssv2967779, nssv2964476, nssv2963263, nssv2964485, nssv2967771, nssv2967600, nssv2967753, nssv2964496, nssv2963244, nssv2964520, nssv2963248, nssv2964537, nssv2963269, nssv2967644, nssv2967784, nssv2964412, nssv2964418, nssv2967537, nssv2963272, nssv2967747, nssv2967750, nssv2964518, nssv2964525, nssv2964484, nssv2964548, nssv2964463, nssv2967567, nssv2964427, nssv2967764, nssv2964408, nssv2967552, nssv2967647, nssv2964419, nssv2967585, nssv2967613, nssv2967648, nssv2964400, nssv2967711, nssv2967626, nssv2967699, nssv2967654, nssv2967597, nssv2963239, nssv2967572, nssv2964415, nssv2967643, nssv2967721, nssv2967782
SamplesNA10859, NA18503, NA12767, NA19012, NA19146, NA21634, NA11881, NA18621, NA19207, NA18870, NA19248, NA12154, NA12818, NA19127, NA12489, NA19194, NA18605, NA21438, NA07347, NA21512, NA19214, NA18509, NA21390, NA18594, NA19192, NA18871, NA12286, NA07349, NA12801, NA18523, NA19114, NA18966, NA11920, NA19209, NA21447, NA12347, NA18501, NA19093, NA19120, NA19178, NA10839, NA11918, NA19191, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA21718, NA18516, NA19186, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19109, NA07019, NA12005, NA18489, NA19144, NA07348, NA12058, NA18507, NA10855, NA18860, NA21425, NA18994, NA07051, NA21454, NA10837, NA19257, NA21312, NA21361, NA21310, NA19180, NA19236, NA12766, NA12287, NA19151, NA19208, NA18862, NA21384, NA18949, NA18868, NA19143, NA12414, NA19140, NA11919, NA12763, NA19211, NA18967, NA19148, NA19239, NA11839, NA11840, NA12753, NA07034, NA21493, NA12004, NA18854, NA19199, NA18635, NA21488, NA18622, NA10846, NA19197, NA19107, NA18990, NA18636, NA18592, NA19096, NA21363, NA12273, NA12761, NA18956, NA21513, NA10852, NA18959, NA18609, NA18497, NA11843, NA12329, NA11831, NA18485, NA11894, NA12400, NA18637, NA11995, NA18916, NA18593, NA19181, NA12777, NA12234, NA21399, NA12144, NA12751, NA19190, NA19000, NA21442, NA19247, NA12239, NA12145, NA07346, NA19129, NA19189, NA21525, NA18633, NA21316, NA12778, NA12348, NA12877, NA21388, NA18968, NA19102, NA12275, NA19005, NA18510, NA19119, NA21455, NA12485, NA19154, NA21382, NA10856, NA21303, NA21485, NA18978, NA11892, NA18961, NA19237, NA18925, NA10836, NA12283, NA18910, NA19141, NA18940, NA19235, NA12891, NA18987, NA12890, NA12146, NA07055, NA19138, NA12272, NA21476, NA10860, NA18909, NA19201, NA21439, NA06991, NA19193, NA19128, NA12812, NA18857, NA19115, NA12889, NA19116, NA21360, NA19123, NA19097, NA19132, NA21383, NA21480, NA10845, NA07022, NA12878, NA21362, NA11830, NA21366, NA19205, NA19225, NA18852, NA19224, NA12546, NA12842, NA19160, NA21583, NA12248, NA18499, NA18571, NA18924, NA19179, NA12817, NA19118, NA12045, NA18611, NA19095, NA10840, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA19113, NA18935, NA18981, NA21614, NA18908, NA19177, NA19249, NA06994, NA21387, NA21391, NA12274, NA12832, NA19185, NA12760, NA19092, NA21302, NA12335, NA18555, NA19200, NA19007, NA21365, NA11917, NA18519, NA19202, NA07000, NA12775, NA10864, NA18980, NA21636, NA21494, NA07031, NA07435, NA19142, NA19137, NA19183, NA10831, NA12827, NA18964, NA12718, NA18863, NA12043, NA19152, NA12249, NA18861, NA12750, NA10843, NA12748, NA21490, NA11930, NA12344, NA07037, NA21524, NA12802, NA19222, NA21317, NA18933, NA21580, NA18952, NA18975, NA07056, NA18874, NA19173, NA19174, NA19252, NA12752, NA12875, NA21478, NA18612, NA18869, NA18500, NA21307, NA19149, NA21404, NA18550, NA18570, NA19003, NA21600, NA18511, NA06989, NA12340, NA21487, NA18948, NA12813, NA18969, NA19150, NA18573, NA21403, NA21479, NA18542, NA19184, NA21386, NA18855, NA18484, NA19210, NA12776, NA11893, NA18524, NA19108, NA18965, NA21489, NA18488, NA12341, NA12044, NA12376, NA18506, NA18873, NA19147, NA21400, NA10863, NA18632, NA19117, NA11882, NA19161, NA21309, NA12843, NA18998, NA18624, NA18934, NA18508, NA12056, NA18992, NA21686, NA12282, NA12336, NA12383, NA18566, NA11994, NA21615, NA21716, NA12155, NA18576, NA18960, NA18563, NA07357, NA12873, NA21301, NA12343, NA18991, NA18930, NA12814, NA12740, NA18856, NA21359, NA07048, NA21453, NA21477, NA18547, NA19182, NA21523, NA12829, NA19256, NA21522, NA18973, NA21608, NA12830, NA19100, NA18970, NA12708, NA19153, NA18518, NA18537, NA18620, NA19122, NA19172, NA07014, NA12892, NA18572, NA19094, NA19103, NA06985, NA19206, NA21717, NA18498, NA18923, NA18486, NA06986, NA18522, NA21514, NA18875, NA18558, NA19098, NA10850, NA21648, NA12872, NA18504, NA19175, NA21381, NA18487, NA18564, NA18942, NA18997, NA19221, NA21475, NA21581, NA18562, NA19131, NA19159, NA18579, NA18974, NA21440, NA18945, NA21313, NA19145, NA21401, NA11832, NA19258, NA21486, NA10851, NA18582, NA18999, NA10857, NA21635, NA18907, NA18911, NA19101, NA12749, NA18995, NA21344, NA06984, NA18867, NA21601, NA12375, NA18872, NA12156, NA12386, NA06995, NA21389, NA10835, NA18971, NA10830, NA18577, NA19099, NA11992, NA10838, NA18917, NA11993, NA12399
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515100
Frequency
Sample Size2366
Observed Gain478
Observed Loss0
Observed Complex0
Frequencyn/a


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