A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515218



Internal ID15813575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:88011384..88215007hg38UCSC Ensembl
InnerchrX:87266384..87470008hg19UCSC Ensembl
InnerchrX:87153040..87356664hg18UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38203624
hg19203625
hg18203625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2993561, nssv2993601, nssv2993405, nssv2993406, nssv2993604, nssv2993458, nssv2993552, nssv2993548, nssv2993596, nssv2993369, nssv2993392, nssv2993535, nssv2993516, nssv2993529, nssv2993591, nssv2993537, nssv2993597, nssv2993421, nssv2993582, nssv2993553, nssv2993556, nssv2993584, nssv2993536, nssv2993450, nssv2993371, nssv2993380, nssv2993479, nssv2993475, nssv2993408, nssv2993598, nssv2993605, nssv2993508, nssv2993566, nssv2993504, nssv2993578, nssv2993532, nssv2993569, nssv2993579, nssv2993568, nssv2993360, nssv2993544, nssv2993463, nssv2993595, nssv2993574, nssv2993382, nssv2993538, nssv2993485, nssv2993427, nssv2993364, nssv2993393, nssv2993480, nssv2993385, nssv2993533, nssv2993528, nssv2993370, nssv2993402, nssv2993416, nssv2993524, nssv2993576, nssv2993403, nssv2993395, nssv2993386, nssv2993572, nssv2993519, nssv2993432, nssv2993517, nssv2993609, nssv2993487, nssv2993424, nssv2993481, nssv2993460, nssv2993600, nssv2993477, nssv2993455, nssv2993557, nssv2993530, nssv2993404, nssv2993510, nssv2993453, nssv2993415, nssv2993505, nssv2993547, nssv2993473, nssv2993571, nssv2993491, nssv2993410, nssv2993490, nssv2993531, nssv2993589, nssv2993567, nssv2993503, nssv2993551, nssv2993534, nssv2993555, nssv2993398, nssv2993449, nssv2993396, nssv2993363, nssv2993442, nssv2993366, nssv2993373, nssv2993511, nssv2993494, nssv2993434, nssv2993365, nssv2993562, nssv2993454, nssv2993492, nssv2993407, nssv2993375, nssv2993549, nssv2993514, nssv2993379, nssv2993435, nssv2993606, nssv2993399, nssv2993438, nssv2993518, nssv2993496, nssv2993542, nssv2993489, nssv2993499, nssv2993439, nssv2993411, nssv2993522, nssv2993554, nssv2993391, nssv2993425, nssv2993459, nssv2993581, nssv2993387, nssv2993452, nssv2993358, nssv2993545, nssv2993583, nssv2993563, nssv2993470, nssv2993593, nssv2993389, nssv2993431, nssv2993586, nssv2993588, nssv2993525, nssv2993433, nssv2993484, nssv2993476, nssv2993397, nssv2993381, nssv2993559, nssv2993448, nssv2993409, nssv2993466, nssv2993607, nssv2993539, nssv2993446, nssv2993474, nssv2993565, nssv2993483, nssv2993440, nssv2993603, nssv2993520, nssv2993422, nssv2993543, nssv2993462, nssv2993558, nssv2993372, nssv2993506, nssv2993443, nssv2993361, nssv2993599, nssv2993401, nssv2993394, nssv2993367, nssv2993418, nssv2993383, nssv2993359, nssv2993469, nssv2993495, nssv2993471, nssv2993368, nssv2993384, nssv2993509, nssv2993482, nssv2993468, nssv2993400, nssv2993526, nssv2993515, nssv2993444, nssv2993594, nssv2993590, nssv2993486, nssv2993461, nssv2993374, nssv2993573, nssv2993465, nssv2993376, nssv2993587, nssv2993575, nssv2993550, nssv2993521, nssv2993420, nssv2993362, nssv2993501, nssv2993423, nssv2993577, nssv2993437, nssv2993488, nssv2993451, nssv2993426, nssv2993523, nssv2993592, nssv2993436, nssv2993527, nssv2993430, nssv2993541, nssv2993560, nssv2993564, nssv2993546, nssv2993513, nssv2993608, nssv2993478, nssv2993472, nssv2993540, nssv2993445, nssv2993502, nssv2993456, nssv2993570, nssv2993388, nssv2993512, nssv2993507, nssv2993441, nssv2993378, nssv2993377, nssv2993500, nssv2993580, nssv2993419, nssv2993467, nssv2993585, nssv2993390, nssv2993497, nssv2993428, nssv2993602, nssv2993414, nssv2993498, nssv2993447, nssv2993457, nssv2993417, nssv2993493, nssv2993429, nssv2993464, nssv2993413, nssv2993412
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, 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, 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 Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515218
Frequency
Sample Size2366
Observed Gain0
Observed Loss252
Observed Complex0
Frequencyn/a


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