A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514750



Internal ID15813109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73556527..73557503hg38UCSC Ensembl
Innerchr14:74023231..74024207hg19UCSC Ensembl
Innerchr14:73092984..73093960hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2801762, nssv2807121, nssv2808297, nssv2801795, nssv2807569, nssv2805513, nssv2802964, nssv2803369, nssv2799649, nssv2798747, nssv2800554, nssv2802054, nssv2807823, nssv2805512, nssv2801581, nssv2800938, nssv2802391, nssv2799279, nssv2807815, nssv2802735, nssv2801156, nssv2804939, nssv2806695, nssv2803435, nssv2801730, nssv2798592, nssv2800828, nssv2804332, nssv2805429, nssv2803151, nssv2802527, nssv2804224, nssv2802424, nssv2802658, nssv2803516, nssv2799076, nssv2805770, nssv2800012, nssv2802537, nssv2800178, nssv2800257, nssv2803546, nssv2806479, nssv2805430, nssv2803324, nssv2806145, nssv2803117, nssv2803884, nssv2805608, nssv2800594, nssv2807296, nssv2801969, nssv2799708, nssv2806562, nssv2802150, nssv2802472, nssv2799695, nssv2806871, nssv2806365, nssv2804481, nssv2807444, nssv2804483, nssv2801822, nssv2802090, nssv2803436, nssv2802509, nssv2800859, nssv2806880, nssv2804063, nssv2803967, nssv2801428, nssv2799053, nssv2800818, nssv2807337, nssv2798530, nssv2798918, nssv2803306, nssv2798678, nssv2801855, nssv2799582, nssv2807593, nssv2801118, nssv2802888, nssv2807379, nssv2800729, nssv2799748, nssv2805805, nssv2800425, nssv2807488, nssv2805187, nssv2799859, nssv2802977, nssv2805875, nssv2805643, nssv2804850, nssv2801537, nssv2806061, nssv2803562, nssv2807423, nssv2802171, nssv2799471, nssv2800956, nssv2802894, nssv2799850, nssv2803447, nssv2802662, nssv2804245, nssv2802055, nssv2807491, nssv2798872, nssv2807880, nssv2804462, nssv2805044, nssv2801162, nssv2799377, nssv2799771, nssv2806642, nssv2799811, nssv2808099, nssv2805076, nssv2803092, nssv2798596, nssv2807266, nssv2808494, nssv2803008, nssv2798634, nssv2800701, nssv2803973, nssv2806958, nssv2800452, nssv2799052, nssv2807290, nssv2804069, nssv2801099, nssv2805987, nssv2803857, nssv2801811, nssv2801305, nssv2807737, nssv2803763, nssv2808456, nssv2807530, nssv2806239, nssv2803531, nssv2802250, nssv2805360, nssv2802597, nssv2805767, nssv2807378, nssv2804936, nssv2800459, nssv2806912, nssv2799524, nssv2807695, nssv2799594, nssv2805915, nssv2805713, nssv2803870, nssv2805115, nssv2804998, nssv2800944, nssv2803558, nssv2800739, nssv2799020, nssv2806122, nssv2798793, nssv2807322, nssv2800344, nssv2805170, nssv2800645, nssv2807219, nssv2799227, nssv2799077, nssv2803791, nssv2801817, nssv2802125, nssv2798754, nssv2806286, nssv2803159, nssv2800718, nssv2802971, nssv2807847, nssv2799515, nssv2804956, nssv2803186, nssv2800960, nssv2803847, nssv2805171, nssv2800034, nssv2807858, nssv2806731, nssv2804715, nssv2807364, nssv2802086, nssv2808180, nssv2807812, nssv2808447, nssv2807635, nssv2806745, nssv2808373, nssv2799131, nssv2803864, nssv2801501, nssv2799896, nssv2801975, nssv2808129, nssv2799220, nssv2799922, nssv2804420, nssv2801389, nssv2802301, nssv2801394, nssv2803807, nssv2803424, nssv2802644, nssv2807518, nssv2805063, nssv2804081, nssv2807961, nssv2804685, nssv2804310, nssv2807634, nssv2803215, nssv2803076, nssv2804697, nssv2800320, nssv2798929, nssv2803276, nssv2799069, nssv2804722, nssv2806216, nssv2798641, nssv2803732, nssv2800689, nssv2807308, nssv2802471, nssv2799244, nssv2801709, nssv2800042, nssv2806945, nssv2802544, nssv2806763, nssv2800848, nssv2807989, nssv2802927, nssv2806424, nssv2806437, nssv2798657, nssv2805439, nssv2800358, nssv2803239, nssv2801218, nssv2807502, nssv2808171, nssv2803043, nssv2800825, nssv2800778, nssv2806919, nssv2804545, nssv2804472, nssv2802666, nssv2799272, nssv2806106, nssv2804831, nssv2801178, nssv2802191, nssv2807466, nssv2808235, nssv2803390, nssv2805666, nssv2800409, nssv2807428, nssv2805701, nssv2800446, nssv2799957, nssv2799539, nssv2808179, nssv2807666, nssv2805981, nssv2806496, nssv2802499, nssv2802224, nssv2799707, nssv2808011, nssv2798828, nssv2800910, nssv2807614, nssv2806971, nssv2802343, nssv2800916, nssv2800713, nssv2805480, nssv2800270, nssv2804052, nssv2802158, nssv2806275, nssv2803484
SamplesNA12383, NA19258, NA21636, NA21317, NA21524, NA18621, NA18947, NA18862, NA18861, NA18508, NA10851, NA12273, NA18855, NA18935, NA11920, NA12344, NA21310, NA18999, NA12751, NA12801, NA18504, NA12340, NA18959, NA21475, NA21635, NA12832, NA18633, NA12399, NA18969, NA19107, NA07346, NA18563, NA19127, NA19192, NA19171, NA18519, NA10846, NA21359, NA18995, NA12802, NA18923, NA18558, NA18916, NA07048, NA11918, NA07347, NA18571, NA21493, NA21381, NA18949, NA11930, NA19123, NA12156, NA18868, NA12044, NA19172, NA19128, NA18966, NA18990, NA21387, NA21344, NA18867, NA12777, NA21307, NA18605, NA12489, NA12752, NA07022, NA19194, NA12878, NA18933, NA18485, NA12877, NA18579, NA19103, NA18572, NA18948, NA21366, NA19208, NA19202, NA19177, NA19150, NA18875, NA12829, NA11893, NA19151, NA11840, NA18930, NA12056, NA19154, NA18857, NA18532, NA06989, NA12145, NA19252, NA18523, NA19132, NA12778, NA10856, NA18570, NA18593, NA21316, NA18974, NA12043, NA21608, NA18953, NA19003, NA19115, NA19256, NA19149, NA18517, NA18564, NA12272, NA21718, NA21390, NA07348, NA21388, NA12763, NA19182, NA19117, NA18501, NA19223, NA07349, NA19211, NA19093, NA18636, NA12329, NA19185, NA18609, NA12875, NA11843, NA19116, NA21384, NA18872, NA19121, NA21363, NA18968, NA18624, NA12890, NA18612, NA19214, NA18487, NA18577, NA11832, NA18620, NA18997, NA18497, NA19141, NA11830, NA21477, NA19186, NA21383, NA19249, NA18592, NA12767, NA18980, NA12236, NA18507, NA19145, NA18603, NA12045, NA19092, NA18486, NA10857, NA19098, NA18870, NA12400, NA07357, NA12341, NA18967, NA19005, NA18550, NA19201, NA18489, NA19119, NA18635, NA18860, NA12891, NA18942, NA11992, NA19197, NA12287, NA19138, NA18964, NA18611, NA11917, NA12005, NA21447, NA18970, NA21382, NA07019, NA18874, NA12274, NA06984, NA21512, NA21525, NA21478, NA12889, NA12815, NA19189, NA10855, NA21601, NA21362, NA19209, NA12828, NA21634, NA21442, NA18975, NA18908, NA12375, NA18973, NA19200, NA12748, NA11831, NA10847, NA21480, NA12335, NA19210, NA18934, NA12343, NA10863, NA10831, NA19152, NA12872, NA18956, NA18859, NA19205, NA18991, NA18516, NA12376, NA10838, NA19221, NA18566, NA21441, NA19000, NA18856, NA12249, NA19113, NA18853, NA12827, NA12264, NA19101, NA19257, NA12766, NA19225, NA06985, NA19160, NA18945, NA21302, NA18608, NA19094, NA11882, NA19206, NA19183, NA18542, NA18909, NA11881, NA19108, NA18952, NA12775, NA10859, NA19240, NA19100, NA19144, NA07051, NA18992, NA21615, NA12874, NA07055, NA18594, NA19109, NA18971, NA21580, NA21404, NA19173, NA18987, NA12749, NA18500, NA12830, NA18506, NA21581, NA21614, NA19096, NA18854, NA18552, NA21389, NA21303, NA21490, NA18852, NA19224, NA19146, NA07000, NA21514, NA18622, NA18562, NA12776, NA18965
Known GenesHEATR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514750
Frequency
Sample Size2366
Observed Gain162
Observed Loss135
Observed Complex0
Frequencyn/a


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