A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515058



Internal ID15813417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117861844..117862652hg38UCSC Ensembl
Innerchr8:118874083..118874891hg19UCSC Ensembl
Innerchr8:118943264..118944072hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38809
hg19809
hg18809
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2954582, nssv2953477, nssv2954588, nssv2954526, nssv2953514, nssv2953445, nssv2954532, nssv2954602, nssv2954551, nssv2954561, nssv2953554, nssv2953503, nssv2953563, nssv2953555, nssv2954477, nssv2953490, nssv2954448, nssv2953584, nssv2953546, nssv2953527, nssv2953468, nssv2954424, nssv2954518, nssv2953463, nssv2954416, nssv2953533, nssv2954530, nssv2954517, nssv2953443, nssv2953588, nssv2954497, nssv2953459, nssv2953650, nssv2954558, nssv2954468, nssv2954540, nssv2953496, nssv2954435, nssv2953531, nssv2953598, nssv2954401, nssv2953530, nssv2953517, nssv2953480, nssv2954449, nssv2953544, nssv2953589, nssv2953484, nssv2953457, nssv2953568, nssv2953447, nssv2954421, nssv2953541, nssv2953465, nssv2953460, nssv2953437, nssv2954467, nssv2954534, nssv2953548, nssv2954453, nssv2954399, nssv2953632, nssv2953567, nssv2953652, nssv2954402, nssv2954594, nssv2953634, nssv2954538, nssv2954585, nssv2954572, nssv2954427, nssv2953582, nssv2954570, nssv2954500, nssv2953565, nssv2953498, nssv2954475, nssv2953549, nssv2953644, nssv2954441, nssv2954405, nssv2953638, nssv2954484, nssv2954600, nssv2953509, nssv2953633, nssv2953583, nssv2954506, nssv2953608, nssv2954485, nssv2953597, nssv2954490, nssv2954450, nssv2954509, nssv2953521, nssv2954494, nssv2954603, nssv2953585, nssv2953475, nssv2954549, nssv2954592, nssv2953602, nssv2953566, nssv2953603, nssv2953577, nssv2953618, nssv2954488, nssv2953529, nssv2953656, nssv2954483, nssv2954459, nssv2953456, nssv2954578, nssv2954447, nssv2954429, nssv2953624, nssv2953471, nssv2953453, nssv2953581, nssv2954430, nssv2954493, nssv2954546, nssv2954531, nssv2954598, nssv2953626, nssv2953629, nssv2953578, nssv2953479, nssv2954492, nssv2953580, nssv2954591, nssv2953569, nssv2954559, nssv2954455, nssv2953619, nssv2953518, nssv2954486, nssv2954452, nssv2953494, nssv2953455, nssv2953645, nssv2954432, nssv2954553, nssv2953540, nssv2953532, nssv2954507, nssv2954466, nssv2953622, nssv2954458, nssv2953606, nssv2953647, nssv2953536, nssv2953507, nssv2953526, nssv2953497, nssv2954584, nssv2954473, nssv2953646, nssv2953591, nssv2953476, nssv2953534, nssv2953625, nssv2954519, nssv2953599, nssv2954514, nssv2954548, nssv2953478, nssv2954411, nssv2953570, nssv2954505, nssv2954451, nssv2954593, nssv2954436, nssv2954479, nssv2953586, nssv2954596, nssv2953439, nssv2953630, nssv2953513, nssv2954495, nssv2954481, nssv2953487, nssv2954440, nssv2954487, nssv2954419, nssv2953561, nssv2954581, nssv2954547, nssv2954529, nssv2953440, nssv2954567, nssv2953590, nssv2953558, nssv2953573, nssv2953631, nssv2953504, nssv2954439, nssv2953557, nssv2953495, nssv2954456, nssv2953621, nssv2953556, nssv2954527, nssv2953528, nssv2954407, nssv2953607, nssv2953576, nssv2954502, nssv2954418, nssv2953458, nssv2953510, nssv2953654, nssv2954599, nssv2954523, nssv2953462, nssv2953538, nssv2954544, nssv2953593, nssv2953552, nssv2954444, nssv2954464, nssv2954489, nssv2953571, nssv2953658, nssv2953562, nssv2954601, nssv2953575, nssv2953452, nssv2953600, nssv2954469, nssv2954576, nssv2954589, nssv2953604, nssv2953659, nssv2953489, nssv2953486, nssv2954541, nssv2954573, nssv2954552, nssv2953660, nssv2954463, nssv2954586, nssv2954434, nssv2953516, nssv2953640, nssv2953520, nssv2954537, nssv2953535, nssv2953482, nssv2954442, nssv2953642, nssv2953636, nssv2954577, nssv2953614, nssv2953483, nssv2954465, nssv2953623, nssv2953506, nssv2953524, nssv2954513, nssv2953481, nssv2954545, nssv2953485, nssv2954462, nssv2954404, nssv2953501, nssv2954595, nssv2953543, nssv2953611, nssv2953572, nssv2953450, nssv2953523, nssv2954556, nssv2954565, nssv2953488, nssv2953651, nssv2953508, nssv2953564, nssv2953641, nssv2953491, nssv2953470, nssv2954566, nssv2954420, nssv2954583, nssv2953610, nssv2954501, nssv2954564, nssv2953605, nssv2954524, nssv2953592, nssv2954476, nssv2954428, nssv2954560, nssv2954504, nssv2953643, nssv2954426, nssv2954511, nssv2953620, nssv2954403, nssv2954474, nssv2953512, nssv2954499, nssv2954412, nssv2953537, nssv2953467, nssv2953442, nssv2953627, nssv2953613, nssv2954415, nssv2953551, nssv2953472, nssv2954425, nssv2954437, nssv2953574, nssv2954433, nssv2954510, nssv2953461, nssv2954555, nssv2954579, nssv2954478, nssv2953594, nssv2953525, nssv2953612, nssv2954471, nssv2953615, nssv2954587, nssv2953639, nssv2954508, nssv2954525, nssv2954516, nssv2953560, nssv2953559, nssv2953579, nssv2954496, nssv2953438, nssv2953595, nssv2954503, nssv2954515, nssv2953446, nssv2954569, nssv2954470, nssv2954571, nssv2953648, nssv2954522, nssv2954417, nssv2954536, nssv2954460, nssv2954472, nssv2953492, nssv2953550, nssv2953499, nssv2954438, nssv2953547, nssv2953515, nssv2954543, nssv2953448, nssv2954528, nssv2953466, nssv2954480, nssv2954406, nssv2953454, nssv2954574, nssv2953637, nssv2954568, nssv2954575, nssv2954533, nssv2953653, nssv2954431, nssv2954461, nssv2954498, nssv2953473, nssv2953617, nssv2953493, nssv2953464, nssv2953441, nssv2954512, nssv2954542, nssv2953469, nssv2954562, nssv2954590, nssv2954554, nssv2953519, nssv2954550, nssv2953451, nssv2953596, nssv2954422, nssv2953502, nssv2954409, nssv2954457, nssv2953635, nssv2954410, nssv2954580, nssv2953657, nssv2953609, nssv2954557, nssv2953553, nssv2954445, nssv2954491, nssv2954446, nssv2954413, nssv2954408, nssv2953522, nssv2954521, nssv2954443, nssv2954535, nssv2954454, nssv2953545, nssv2954563, nssv2953601, nssv2953505, nssv2954400, nssv2953628, nssv2954597, nssv2954414, nssv2953616, nssv2953511, nssv2953587, nssv2953655, nssv2953649, nssv2953539, nssv2954539, nssv2954520, nssv2954423, nssv2953542, nssv2953449, nssv2953444, nssv2954482, nssv2953500, nssv2953474
SamplesNA19258, NA12717, NA21636, NA21317, NA12842, NA21524, NA21488, NA21423, NA18621, NA18947, NA12286, NA19204, NA18862, NA18861, NA18508, NA10851, NA18524, NA12414, NA18855, NA18935, NA21310, NA18999, NA12751, NA21489, NA18925, NA12801, NA18504, NA12340, NA12146, NA18959, NA21475, NA21301, NA21635, NA18633, NA21522, NA18510, NA12750, NA18969, NA19107, NA12813, NA18563, NA19127, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA21359, NA18995, NA12336, NA19191, NA18923, NA18558, NA18547, NA18960, NA18916, NA21479, NA11918, NA07347, NA18582, NA18571, NA21493, NA21365, NA21391, NA19130, NA18949, NA11930, NA19199, NA19123, NA12156, NA18868, NA07014, NA12044, NA11994, NA19235, NA19207, NA19172, NA10850, NA19128, NA18966, NA18990, NA19239, NA21387, NA21400, NA18867, NA12777, NA21307, NA18605, NA21313, NA12489, NA12752, NA19120, NA07022, NA19194, NA19175, NA19161, NA18933, NA12485, NA19184, NA18485, NA18579, NA12718, NA18871, NA19103, NA18572, NA18948, NA21438, NA18981, NA12234, NA19208, NA19202, NA18907, NA18537, NA18573, NA12818, NA11919, NA19177, NA19142, NA19150, NA18875, NA12829, NA19181, NA19151, NA18930, NA12056, NA19154, NA18857, NA18532, NA12145, NA19099, NA18555, NA19252, NA12144, NA18523, NA19132, NA12778, NA10856, NA18570, NA21309, NA18593, NA12546, NA19012, NA21316, NA18974, NA12043, NA21608, NA18953, NA19003, NA18632, NA06991, NA19115, NA19256, NA19149, NA19147, NA18517, NA18863, NA18564, NA19140, NA12272, NA12873, NA21718, NA21390, NA07348, NA21388, NA21361, NA19182, NA19117, NA18501, NA18484, NA19223, NA19178, NA10843, NA19211, NA19093, NA18636, NA18509, NA19185, NA18609, NA19102, NA18873, NA12875, NA11843, NA19116, NA21384, NA18872, NA19121, NA21363, NA19129, NA11892, NA18968, NA18624, NA21487, NA12154, NA18612, NA10837, NA19214, NA18487, NA18577, NA11832, NA18620, NA18997, NA21403, NA18998, NA18497, NA19237, NA19141, NA19222, NA11830, NA21686, NA21477, NA19186, NA18924, NA19249, NA11995, NA11829, NA18592, NA12814, NA12767, NA18980, NA12236, NA21476, NA18507, NA21399, NA19145, NA18917, NA18603, NA12045, NA19092, NA18486, NA18545, NA21648, NA21717, NA21386, NA12248, NA10857, NA19190, NA19098, NA18870, NA12155, NA07357, NA18967, NA19005, NA18550, NA12812, NA19201, NA18489, NA21526, NA19119, NA18635, NA19198, NA18860, NA12348, NA19131, NA18942, NA11992, NA21401, NA19197, NA12283, NA12287, NA19138, NA18498, NA18964, NA06993, NA18611, NA12761, NA11917, NA12282, NA21447, NA18970, NA21382, NA07019, NA19180, NA18874, NA12274, NA21512, NA21454, NA19137, NA21525, NA21453, NA21478, NA19159, NA21716, NA19189, NA10855, NA21601, NA21362, NA19209, NA12828, NA21634, NA21442, NA18975, NA18908, NA18973, NA19200, NA21494, NA12748, NA19007, NA11831, NA10847, NA21480, NA19247, NA19210, NA18934, NA12753, NA12343, NA10831, NA19152, NA12872, NA18956, NA18859, NA19205, NA18991, NA19236, NA18516, NA21439, NA18637, NA12376, NA18910, NA18503, NA19097, NA11839, NA21485, NA19179, NA19221, NA18566, NA21441, NA19114, NA19118, NA19000, NA18518, NA18499, NA11894, NA10830, NA18856, NA12249, NA19113, NA12892, NA12239, NA18853, NA12817, NA19101, NA10852, NA19257, NA12766, NA19225, NA06985, NA21583, NA19160, NA19095, NA18945, NA18576, NA21302, NA18608, NA19094, NA18978, NA11882, NA19206, NA19183, NA18542, NA12716, NA18909, NA11881, NA19108, NA18961, NA18952, NA12864, NA12775, NA19240, NA19174, NA21425, NA19100, NA19144, NA07051, NA18992, NA21615, NA10840, NA19193, NA18869, NA12874, NA07037, NA21513, NA18911, NA06986, NA18594, NA19143, NA12708, NA12740, NA19109, NA19248, NA18971, NA21580, NA21404, NA19173, NA18987, NA12749, NA18994, NA18500, NA12830, NA18506, NA21581, NA21614, NA21486, NA19096, NA18854, NA21455, NA21312, NA18972, NA18552, NA21389, NA21303, NA21490, NA18852, NA07056, NA19224, NA19146, NA18488, NA19148, NA18511, NA07000, NA21514, NA21440, NA18522, NA07034, NA18622, NA19153, NA18562, NA12776, NA18965
Known GenesEXT1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515058
Frequency
Sample Size2366
Observed Gain427
Observed Loss2
Observed Complex0
Frequencyn/a


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