A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515214



Internal ID15813571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:76917205..76920597hg38UCSC Ensembl
InnerchrX:76137630..76141022hg19UCSC Ensembl
InnerchrX:76054024..76057416hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383393
hg193393
hg183393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2992595, nssv2992551, nssv2992603, nssv2992567, nssv2992625, nssv2992497, nssv2992670, nssv2992664, nssv2992669, nssv2992570, nssv2992741, nssv2992739, nssv2992725, nssv2992639, nssv2992563, nssv2992724, nssv2992674, nssv2992612, nssv2992513, nssv2992519, nssv2992656, nssv2992615, nssv2992532, nssv2992507, nssv2992742, nssv2992666, nssv2992555, nssv2992626, nssv2992538, nssv2992559, nssv2992568, nssv2992737, nssv2992634, nssv2992667, nssv2992577, nssv2992630, nssv2992637, nssv2992511, nssv2992574, nssv2992492, nssv2992530, nssv2992661, nssv2992609, nssv2992525, nssv2992501, nssv2992534, nssv2992705, nssv2992542, nssv2992529, nssv2992648, nssv2992493, nssv2992693, nssv2992655, nssv2992715, nssv2992650, nssv2992707, nssv2992617, nssv2992503, nssv2992703, nssv2992586, nssv2992623, nssv2992649, nssv2992680, nssv2992685, nssv2992540, nssv2992490, nssv2992494, nssv2992701, nssv2992504, nssv2992689, nssv2992691, nssv2992675, nssv2992722, nssv2992720, nssv2992607, nssv2992608, nssv2992651, nssv2992581, nssv2992659, nssv2992730, nssv2992700, nssv2992629, nssv2992716, nssv2992499, nssv2992704, nssv2992702, nssv2992719, nssv2992512, nssv2992536, nssv2992566, nssv2992681, nssv2992738, nssv2992671, nssv2992640, nssv2992508, nssv2992544, nssv2992533, nssv2992636, nssv2992698, nssv2992687, nssv2992496, nssv2992605, nssv2992594, nssv2992524, nssv2992514, nssv2992502, nssv2992585, nssv2992598, nssv2992743, nssv2992733, nssv2992654, nssv2992696, nssv2992510, nssv2992621, nssv2992565, nssv2992726, nssv2992631, nssv2992717, nssv2992644, nssv2992539, nssv2992505, nssv2992509, nssv2992520, nssv2992547, nssv2992515, nssv2992657, nssv2992652, nssv2992620, nssv2992740, nssv2992735, nssv2992677, nssv2992619, nssv2992699, nssv2992583, nssv2992600, nssv2992727, nssv2992604, nssv2992706, nssv2992588, nssv2992596, nssv2992714, nssv2992618, nssv2992578, nssv2992712, nssv2992573, nssv2992562, nssv2992537, nssv2992668, nssv2992528, nssv2992575, nssv2992531, nssv2992688, nssv2992686, nssv2992518, nssv2992550, nssv2992732, nssv2992653, nssv2992556, nssv2992584, nssv2992713, nssv2992628, nssv2992545, nssv2992517, nssv2992676, nssv2992543, nssv2992535, nssv2992521, nssv2992663, nssv2992564, nssv2992709, nssv2992553, nssv2992622, nssv2992561, nssv2992642, nssv2992549, nssv2992723, nssv2992593, nssv2992495, nssv2992597, nssv2992523, nssv2992697, nssv2992576, nssv2992635, nssv2992695, nssv2992662, nssv2992546, nssv2992647, nssv2992678, nssv2992672, nssv2992610, nssv2992552, nssv2992679, nssv2992522, nssv2992599, nssv2992646, nssv2992558, nssv2992682, nssv2992606, nssv2992734, nssv2992729, nssv2992591, nssv2992728, nssv2992590, nssv2992569, nssv2992557, nssv2992592, nssv2992684, nssv2992541, nssv2992613, nssv2992683, nssv2992587, nssv2992708, nssv2992526, nssv2992641, nssv2992660, nssv2992554, nssv2992627, nssv2992491, nssv2992527, nssv2992498, nssv2992616, nssv2992736, nssv2992731, nssv2992579, nssv2992580, nssv2992632, nssv2992516, nssv2992638, nssv2992602, nssv2992673, nssv2992694, nssv2992506, nssv2992690, nssv2992500, nssv2992711, nssv2992710, nssv2992614, nssv2992692, nssv2992633, nssv2992601, nssv2992718, nssv2992611, nssv2992665, nssv2992582, nssv2992560, nssv2992589, nssv2992721, nssv2992624, nssv2992645, nssv2992548, nssv2992571, nssv2992658, nssv2992643, nssv2992572
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, NA07014, NA11994, NA19207, NA19128, NA18966, 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, NA12873, 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 GenesMIR384
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515214
Frequency
Sample Size2366
Observed Gain0
Observed Loss254
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer