A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514810



Internal ID15466444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70114836..70162524hg38UCSC Ensembl
Innerchr16:70148739..70196427hg19UCSC Ensembl
Innerchr16:68706240..68753928hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3847689
hg1947689
hg1847689
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2821569, nssv2821503, nssv2821495, nssv2821470, nssv2821695, nssv2821530, nssv2821599, nssv2821676, nssv2821640, nssv2821551, nssv2821656, nssv2821497, nssv2821657, nssv2821549, nssv2821537, nssv2821575, nssv2821453, nssv2821593, nssv2821482, nssv2821698, nssv2821683, nssv2821508, nssv2821596, nssv2821581, nssv2820707, nssv2820694, nssv2820693, nssv2821546, nssv2821456, nssv2821561, nssv2821479, nssv2821653, nssv2821634, nssv2821644, nssv2821485, nssv2821476, nssv2821636, nssv2820708, nssv2820688, nssv2821605, nssv2821506, nssv2821680, nssv2821692, nssv2821547, nssv2821594, nssv2821610, nssv2821527, nssv2821708, nssv2820690, nssv2821667, nssv2821535, nssv2821579, nssv2821542, nssv2821472, nssv2821585, nssv2821612, nssv2821462, nssv2821576, nssv2821499, nssv2821552, nssv2821669, nssv2821624, nssv2821489, nssv2821697, nssv2821491, nssv2821574, nssv2821673, nssv2821702, nssv2821666, nssv2821613, nssv2821701, nssv2821641, nssv2821694, nssv2821558, nssv2821679, nssv2821688, nssv2820706, nssv2821583, nssv2821614, nssv2821545, nssv2821509, nssv2821659, nssv2821615, nssv2821705, nssv2821601, nssv2821597, nssv2820699, nssv2821452, nssv2821517, nssv2821512, nssv2821507, nssv2821529, nssv2821629, nssv2821639, nssv2821465, nssv2821626, nssv2821707, nssv2821563, nssv2820684, nssv2821674, nssv2821481, nssv2821522, nssv2820698, nssv2821604, nssv2821648, nssv2820701, nssv2821672, nssv2821587, nssv2821463, nssv2821548, nssv2821595, nssv2821668, nssv2821564, nssv2821461, nssv2821649, nssv2821515, nssv2821658, nssv2821568, nssv2821553, nssv2821622, nssv2821619, nssv2821514, nssv2821566, nssv2820682, nssv2821562, nssv2821670, nssv2821521, nssv2821519, nssv2821457, nssv2821646, nssv2821466, nssv2821687, nssv2821618, nssv2821577, nssv2821510, nssv2821468, nssv2821584, nssv2821504, nssv2821483, nssv2821638, nssv2821642, nssv2821696, nssv2821590, nssv2821451, nssv2821686, nssv2821526, nssv2821582, nssv2821541, nssv2820691, nssv2821565, nssv2821525, nssv2821681, nssv2821571, nssv2821600, nssv2821637, nssv2821454, nssv2820687, nssv2821700, nssv2821550, nssv2821709, nssv2821611, nssv2820678, nssv2821494, nssv2820679, nssv2821572, nssv2821660, nssv2821703, nssv2821539, nssv2821518, nssv2821484, nssv2820697, nssv2821632, nssv2821647, nssv2821501, nssv2821486, nssv2821602, nssv2820702, nssv2820695, nssv2821538, nssv2821671, nssv2821554, nssv2821447, nssv2820705, nssv2821570, nssv2820692, nssv2820700, nssv2821543, nssv2821598, nssv2820689, nssv2821532, nssv2821685, nssv2821620, nssv2821645, nssv2821528, nssv2821625, nssv2821621, nssv2821578, nssv2821533, nssv2821475, nssv2821496, nssv2821488, nssv2821540, nssv2821511, nssv2821531, nssv2821706, nssv2821544, nssv2821487, nssv2821448, nssv2821623, nssv2821627, nssv2820704, nssv2821608, nssv2821500, nssv2821471, nssv2821661, nssv2821450, nssv2821689, nssv2821520, nssv2821469, nssv2821684, nssv2820681, nssv2821589, nssv2820685, nssv2821480, nssv2821693, nssv2821516, nssv2821557, nssv2821663, nssv2820686, nssv2821650, nssv2821534, nssv2821464, nssv2821523, nssv2821628, nssv2821591, nssv2821662, nssv2821603, nssv2821643, nssv2821478, nssv2821536, nssv2821675, nssv2821505, nssv2821592, nssv2821664, nssv2820683, nssv2821677, nssv2821477, nssv2821458, nssv2821455, nssv2821616, nssv2821473, nssv2821704, nssv2821609, nssv2821467, nssv2820696, nssv2821567, nssv2821493, nssv2820680, nssv2821459, nssv2821474, nssv2821691, nssv2821524, nssv2821555, nssv2821630, nssv2821586, nssv2821710, nssv2821635, nssv2821573, nssv2820703, nssv2821690, nssv2821678, nssv2821556, nssv2821617, nssv2821588, nssv2821492, nssv2821699, nssv2821560, nssv2821502, nssv2821460, nssv2821490, nssv2821654, nssv2821513, nssv2821682, nssv2821665, nssv2821651, nssv2821631, nssv2821580, nssv2821655, nssv2821498, nssv2821606, nssv2821633, nssv2821559, nssv2821652, nssv2821607, nssv2821449
SamplesNA12383, NA12842, NA21524, NA21488, NA18947, NA19204, NA18861, NA18508, NA10851, NA12414, NA18855, NA18935, NA12344, NA21310, NA18925, NA12801, NA18504, NA18959, NA21301, NA18633, NA21522, NA18510, NA12750, NA12399, NA18969, NA07346, NA19192, NA18940, NA10846, NA21359, NA18995, NA12336, NA12802, NA18923, NA18558, NA18547, NA07048, NA07347, NA18571, NA21493, NA21381, NA21365, NA21391, NA18949, NA11930, NA12275, NA19199, NA19123, NA18868, NA07014, NA12044, NA11994, NA19235, NA19207, NA19172, NA10850, NA18966, NA21523, NA21387, NA18867, NA12777, NA07022, NA19194, NA19175, NA19161, NA18933, NA19184, NA18981, NA12234, NA19208, NA19202, NA18907, NA18573, NA12818, NA11919, NA19177, NA19142, NA19150, NA12829, NA11893, NA19181, NA18930, NA19154, NA18532, NA12145, NA19099, NA19252, NA12144, NA18523, NA19132, NA12778, NA10856, NA12546, NA19012, NA18974, NA18953, NA19003, NA06991, NA19149, NA19147, NA18517, NA18863, NA18564, NA19140, NA12272, NA12873, NA07348, NA12763, NA21361, NA12347, NA19182, NA19117, NA18501, NA18484, NA06994, NA10843, NA07349, NA19211, NA19093, NA18636, NA19185, NA19102, NA18873, NA12875, NA19116, NA18872, NA21363, NA11892, NA18624, NA12890, NA21487, NA12154, NA18612, NA10837, NA19214, NA18620, NA19222, NA11830, NA21686, NA19186, NA19249, NA11995, NA11829, NA10845, NA12814, NA12767, NA18980, NA12236, NA19122, NA18507, NA18603, NA12045, NA12004, NA12248, NA12058, NA10857, NA18870, NA12155, NA07357, NA12341, NA18967, NA19005, NA12812, NA18489, NA21526, NA19119, NA19198, NA18860, NA12891, NA12348, NA18942, NA11992, NA21401, NA19197, NA12283, NA19138, NA18498, NA18611, NA12761, NA11917, NA12282, NA12005, NA21447, NA21382, NA07019, NA19180, NA18874, NA06984, NA21454, NA19137, NA21525, NA12815, NA19159, NA19189, NA10855, NA21601, NA21362, NA19209, NA21634, NA18908, NA18973, NA21494, NA12748, NA19007, NA12335, NA19210, NA18934, NA10836, NA12343, NA10863, NA12872, NA18956, NA18859, NA19205, NA18991, NA19236, NA21439, NA18637, NA12376, NA18503, NA10838, NA21485, NA19179, NA19221, NA21441, NA19114, NA19118, NA19000, NA07031, NA18518, NA12249, NA19113, NA12239, NA18853, NA12827, NA12817, NA10852, NA19257, NA12766, NA06985, NA19160, NA19095, NA18945, NA18576, NA21302, NA18608, NA19094, NA18978, NA06995, NA11882, NA19206, NA19183, NA12716, NA18909, NA11881, NA19108, NA18961, NA12864, NA12775, NA21425, NA19144, NA07051, NA18992, NA21615, NA19193, NA18869, NA12874, NA07037, NA21513, NA06986, NA12740, NA19248, NA19173, NA18987, NA12749, NA18994, NA18506, NA21614, NA21486, NA18854, NA21455, NA21312, NA18972, NA18552, NA21303, NA18852, NA07056, NA18511, NA07000, NA21514, NA18522, NA07034, NA10864, NA19153, NA18562
Known GenesPDPR
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514810
Frequency
Sample Size2366
Observed Gain193
Observed Loss102
Observed Complex0
Frequencyn/a


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