A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514038



Internal ID15812590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202445881..202527337hg38UCSC Ensembl
Innerchr1:202415009..202496465hg19UCSC Ensembl
Innerchr1:200681632..200763088hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3881457
hg1981457
hg1881457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2854668, nssv2854721, nssv2854550, nssv2854591, nssv2854737, nssv2854664, nssv2854640, nssv2854636, nssv2854619, nssv2854555, nssv2854570, nssv2854596, nssv2854499, nssv2854711, nssv2854629, nssv2854671, nssv2854534, nssv2854648, nssv2854594, nssv2854544, nssv2854512, nssv2854692, nssv2854497, nssv2854722, nssv2854628, nssv2854494, nssv2854642, nssv2854538, nssv2854493, nssv2854700, nssv2854732, nssv2854523, nssv2854719, nssv2854713, nssv2854654, nssv2854598, nssv2854735, nssv2854638, nssv2854502, nssv2854702, nssv2854611, nssv2854495, nssv2854680, nssv2854630, nssv2854541, nssv2854587, nssv2854525, nssv2854697, nssv2854568, nssv2854658, nssv2854526, nssv2854689, nssv2854679, nssv2854677, nssv2854739, nssv2854515, nssv2854580, nssv2854620, nssv2854696, nssv2854595, nssv2854712, nssv2854559, nssv2854626, nssv2854581, nssv2854537, nssv2854546, nssv2854662, nssv2854650, nssv2854604, nssv2854506, nssv2854736, nssv2854597, nssv2854576, nssv2854655, nssv2854627, nssv2854694, nssv2854656, nssv2854632, nssv2854554, nssv2854524, nssv2854616, nssv2854505, nssv2854631, nssv2854562, nssv2854609, nssv2854561, nssv2854683, nssv2854614, nssv2854560, nssv2854698, nssv2854685, nssv2854701, nssv2854549, nssv2854647, nssv2854542, nssv2854725, nssv2854511, nssv2854548, nssv2854589, nssv2854509, nssv2854625, nssv2854715, nssv2854618, nssv2854730, nssv2854720, nssv2854660, nssv2854527, nssv2854612, nssv2854705, nssv2854676, nssv2854714, nssv2854586, nssv2854706, nssv2854674, nssv2854653, nssv2854606, nssv2854663, nssv2854675, nssv2854517, nssv2854649, nssv2854565, nssv2854740, nssv2854723, nssv2854623, nssv2854533, nssv2854569, nssv2854536, nssv2854539, nssv2854514, nssv2854582, nssv2854522, nssv2854634, nssv2854657, nssv2854709, nssv2854520, nssv2854556, nssv2854571, nssv2854564, nssv2854532, nssv2854741, nssv2854496, nssv2854716, nssv2854519, nssv2854729, nssv2854703, nssv2854678, nssv2854602, nssv2854608, nssv2854558, nssv2854498, nssv2854593, nssv2854575, nssv2854708, nssv2854507, nssv2854599, nssv2854567, nssv2854710, nssv2854727, nssv2854652, nssv2854588, nssv2854543, nssv2854681, nssv2854699, nssv2854690, nssv2854590, nssv2854644, nssv2854672, nssv2854540, nssv2854717, nssv2854724, nssv2854585, nssv2854742, nssv2854651, nssv2854707, nssv2854687, nssv2854621, nssv2854510, nssv2854682, nssv2854531, nssv2854513, nssv2854547, nssv2854738, nssv2854572, nssv2854734, nssv2854695, nssv2854601, nssv2854508, nssv2854641, nssv2854637, nssv2854691, nssv2854643, nssv2854579, nssv2854518, nssv2854646, nssv2854516, nssv2854500, nssv2854661, nssv2854666, nssv2854557, nssv2854574, nssv2854535, nssv2854624, nssv2854566, nssv2854733, nssv2854503, nssv2854693, nssv2854673, nssv2854613, nssv2854530, nssv2854607, nssv2854577, nssv2854521, nssv2854622, nssv2854573, nssv2854645, nssv2854633, nssv2854545, nssv2854610, nssv2854504, nssv2854583, nssv2854688, nssv2854670, nssv2854659, nssv2854552, nssv2854728, nssv2854704, nssv2854605, nssv2854501, nssv2854492, nssv2854553, nssv2854600, nssv2854731, nssv2854617, nssv2854684, nssv2854665, nssv2854718, nssv2854551, nssv2854578, nssv2854528, nssv2854635, nssv2854592, nssv2854686, nssv2854563, nssv2854667, nssv2854726, nssv2854669, nssv2854639, nssv2854615, nssv2854584, nssv2854529, nssv2854603
SamplesNA19258, NA21317, NA12842, NA21488, NA21423, NA18621, NA12286, NA18862, NA10851, NA18524, NA18935, NA12344, NA18925, NA12801, NA18504, NA12340, NA12146, NA18959, NA21475, NA21301, NA18633, NA21522, NA18510, NA12750, NA12399, NA19107, NA18563, NA19192, NA19171, NA18940, NA18519, NA10835, NA10846, NA21359, NA18995, NA19191, NA18923, NA18558, NA18960, NA07048, NA07347, NA21381, NA19130, NA11930, NA19123, NA18868, NA11994, NA19207, NA19128, NA18990, NA21523, NA19239, NA21387, NA21344, NA12777, NA21307, NA18605, NA21313, NA12760, NA12752, NA19120, NA07022, NA19194, NA19175, NA19161, NA12485, NA19184, NA18485, NA12877, NA18871, NA19103, NA18572, NA18948, NA21366, NA19208, NA11919, NA19177, NA19142, NA19150, NA12829, NA11893, NA19181, NA12056, NA19154, NA18857, NA19252, NA12144, NA10856, NA12546, NA19012, NA21316, NA18974, NA12043, NA21608, NA18953, NA18632, NA19256, NA18863, NA12272, NA21718, NA21390, NA12347, NA19117, NA18501, NA06994, NA07435, NA19223, NA19178, NA07349, NA19211, NA18636, NA18509, NA18609, NA11843, NA21384, NA18872, NA19121, NA18624, NA12154, NA18612, NA10837, NA18487, NA18620, NA18497, NA19141, NA21477, NA19186, NA21383, NA19249, NA11829, NA10845, NA12814, NA18507, NA21399, NA19145, NA18917, NA18603, NA12045, NA19092, NA18486, NA21648, NA12248, NA10857, NA19098, NA12155, NA07357, NA18967, NA19005, NA12812, NA19119, NA18635, NA19198, NA18860, NA12891, NA11992, NA21401, NA19138, NA18498, NA06993, NA18611, NA11917, NA12282, NA12005, NA21447, NA18970, NA18874, NA12274, NA06984, NA21512, NA21525, NA21453, NA21478, NA12889, NA21716, NA19189, NA21634, NA21442, NA18908, NA12375, NA19200, NA12748, NA19007, NA11831, NA21599, NA12335, NA19210, NA18934, NA12872, NA18859, NA19205, NA19236, NA18516, NA21439, NA18637, NA18910, NA18503, NA11839, NA10838, NA21485, NA19000, NA10830, NA18856, NA19113, NA18853, NA12827, NA12264, NA12817, NA19101, NA12766, NA21583, NA19160, NA18945, NA18608, NA06995, NA12716, NA11881, NA18961, NA18952, NA12864, NA12775, NA19174, NA19144, NA07051, NA18869, NA12874, NA18911, NA06986, NA19248, NA18971, NA19173, NA18994, NA10860, NA18500, NA18506, NA21581, NA21614, NA19096, NA18854, NA21312, NA21389, NA21490, NA19224, NA19146, NA21514, NA21440, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
Known GenesPPP1R12B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514038
Frequency
Sample Size2366
Observed Gain251
Observed Loss0
Observed Complex0
Frequencyn/a


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