A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515228



Internal ID15813585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:23385945..23472183hg38UCSC Ensembl
InnerchrY:25532092..25618330hg19UCSC Ensembl
InnerchrY:23941480..24027718hg18UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3886239
hg1986239
hg1886239
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2995653, nssv2995569, nssv2995712, nssv2995627, nssv2995610, nssv2995620, nssv2995642, nssv2995577, nssv2995769, nssv2995754, nssv2995567, nssv2995594, nssv2995691, nssv2995622, nssv2995751, nssv2995768, nssv2995727, nssv2995632, nssv2995612, nssv2995750, nssv2995763, nssv2995743, nssv2995669, nssv2995597, nssv2995735, nssv2995721, nssv2995634, nssv2995657, nssv2995638, nssv2995602, nssv2995682, nssv2995660, nssv2995639, nssv2995707, nssv2995570, nssv2995681, nssv2995626, nssv2995678, nssv2995559, nssv2995688, nssv2995766, nssv2995683, nssv2995694, nssv2995552, nssv2995605, nssv2995739, nssv2995589, nssv2995684, nssv2995666, nssv2995595, nssv2995618, nssv2995709, nssv2995581, nssv2995725, nssv2995630, nssv2995623, nssv2995574, nssv2995566, nssv2995714, nssv2995544, nssv2995748, nssv2995760, nssv2995637, nssv2995547, nssv2995546, nssv2995742, nssv2995604, nssv2995676, nssv2995695, nssv2995700, nssv2995744, nssv2995731, nssv2995646, nssv2995777, nssv2995685, nssv2995668, nssv2995654, nssv2995656, nssv2995741, nssv2995663, nssv2995603, nssv2995702, nssv2995652, nssv2995759, nssv2995593, nssv2995615, nssv2995641, nssv2995729, nssv2995633, nssv2995583, nssv2995555, nssv2995659, nssv2995575, nssv2995698, nssv2995747, nssv2995582, nssv2995711, nssv2995662, nssv2995580, nssv2995647, nssv2995549, nssv2995724, nssv2995697, nssv2995614, nssv2995736, nssv2995770, nssv2995680, nssv2995550, nssv2995643, nssv2995706, nssv2995571, nssv2995753, nssv2995699, nssv2995718, nssv2995689, nssv2995619, nssv2995775, nssv2995696, nssv2995572, nssv2995734, nssv2995629, nssv2995609, nssv2995690, nssv2995722, nssv2995716, nssv2995640, nssv2995584, nssv2995730, nssv2995554, nssv2995765, nssv2995576, nssv2995675, nssv2995621, nssv2995560, nssv2995664, nssv2995599, nssv2995591, nssv2995674, nssv2995650, nssv2995764, nssv2995778, nssv2995717, nssv2995635, nssv2995585, nssv2995677, nssv2995564, nssv2995740, nssv2995732, nssv2995565, nssv2995661, nssv2995625, nssv2995752, nssv2995670, nssv2995600, nssv2995704, nssv2995701, nssv2995616, nssv2995703, nssv2995558, nssv2995762, nssv2995608, nssv2995636, nssv2995767, nssv2995607, nssv2995720, nssv2995651, nssv2995551, nssv2995745, nssv2995655, nssv2995611, nssv2995573, nssv2995738, nssv2995692, nssv2995644, nssv2995693, nssv2995710, nssv2995672, nssv2995617, nssv2995667, nssv2995772, nssv2995545, nssv2995757, nssv2995673, nssv2995687, nssv2995774, nssv2995715, nssv2995771, nssv2995713, nssv2995719, nssv2995758, nssv2995728, nssv2995726, nssv2995590, nssv2995548, nssv2995773, nssv2995686, nssv2995628, nssv2995606, nssv2995756, nssv2995556, nssv2995705, nssv2995755, nssv2995588, nssv2995579, nssv2995723, nssv2995679, nssv2995563, nssv2995781, nssv2995776, nssv2995671, nssv2995631, nssv2995553, nssv2995598, nssv2995587, nssv2995737, nssv2995708, nssv2995645, nssv2995561, nssv2995746, nssv2995733, nssv2995749, nssv2995648, nssv2995562, nssv2995568, nssv2995658, nssv2995761, nssv2995586, nssv2995557, nssv2995649, nssv2995596, nssv2995779, nssv2995624, nssv2995665, nssv2995592, nssv2995578, nssv2995613, nssv2995780, nssv2995601
SamplesNA19258, NA21317, NA12842, NA21488, NA18621, NA12286, NA18862, NA10851, NA18524, NA18935, NA12344, NA21310, NA18925, NA12801, NA12340, NA12146, NA18959, NA21475, NA21301, NA18633, NA21522, NA18510, NA12750, NA12399, NA19107, NA19192, NA19171, NA18519, NA10835, NA10846, NA21359, NA19191, NA18923, NA18558, NA07048, NA07347, NA21381, NA19130, NA11930, NA19123, NA18868, 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, NA21366, NA19208, NA11919, NA19177, NA19142, NA19150, NA12829, NA11893, NA19181, NA12056, NA19154, NA18857, NA19252, NA12144, NA10856, NA12546, 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, NA19005, NA12812, NA19119, NA19198, NA18860, NA12891, NA11992, NA21401, NA19138, NA18498, NA06993, NA18611, NA11917, NA12282, NA12005, NA21447, 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, NA11839, NA21485, NA19000, NA10830, NA18856, NA19113, NA18853, NA12827, NA12264, NA12817, NA19101, NA12766, NA21583, NA19160, NA18945, NA18608, NA06995, NA12716, NA11881, 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 Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515228
Frequency
Sample Size2366
Observed Gain236
Observed Loss2
Observed Complex0
Frequencyn/a


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