A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514572



Internal ID15466208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70688910..70688966hg38UCSC Ensembl
Innerchr10:72448666..72448722hg19UCSC Ensembl
Innerchr10:72118672..72118728hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2769120, nssv2769258, nssv2773196, nssv2774468, nssv2772995, nssv2777523, nssv2771932, nssv2774829, nssv2771019, nssv2771300, nssv2775374, nssv2768712, nssv2769642, nssv2771807, nssv2778156, nssv2778465, nssv2776151, nssv2770228, nssv2772437, nssv2776127, nssv2777034, nssv2772853, nssv2770591, nssv2773571, nssv2771933, nssv2773212, nssv2774068, nssv2775838, nssv2777838, nssv2770957, nssv2774962, nssv2772593, nssv2769857, nssv2770283, nssv2771683, nssv2772180, nssv2769294, nssv2773179, nssv2776607, nssv2768924, nssv2777957, nssv2773187, nssv2770397, nssv2778215, nssv2775648, nssv2770814, nssv2772438, nssv2769599, nssv2773017, nssv2769026, nssv2777482, nssv2769098, nssv2770863, nssv2773852, nssv2773121, nssv2771667, nssv2775049, nssv2776858, nssv2768637, nssv2769206, nssv2777532, nssv2773296, nssv2771575, nssv2771475, nssv2774084, nssv2772852, nssv2770052, nssv2771186, nssv2771482, nssv2776177, nssv2769752, nssv2768965, nssv2772536, nssv2768505, nssv2771351, nssv2776393, nssv2770590, nssv2773249, nssv2774818, nssv2775032, nssv2772432, nssv2772542, nssv2772598, nssv2773656, nssv2773628, nssv2776798, nssv2777121, nssv2775143, nssv2778408, nssv2769382, nssv2778287, nssv2769205, nssv2775333, nssv2770297, nssv2770333, nssv2774245, nssv2778478, nssv2771082, nssv2775955, nssv2775972, nssv2770005, nssv2771133, nssv2772926, nssv2776712, nssv2777338, nssv2769641, nssv2771612, nssv2772600, nssv2769679, nssv2772098, nssv2769103, nssv2770523, nssv2772685, nssv2774396, nssv2776447, nssv2778417, nssv2770767, nssv2774552, nssv2776569, nssv2771038, nssv2771168, nssv2774949, nssv2777817, nssv2776603, nssv2777207, nssv2774385, nssv2776797, nssv2771926, nssv2770730, nssv2771384, nssv2771697, nssv2769455, nssv2777821, nssv2768829, nssv2770205, nssv2769744, nssv2778102, nssv2775023, nssv2772320, nssv2778446, nssv2775056, nssv2772780, nssv2774630, nssv2768791, nssv2773935, nssv2777798, nssv2773711, nssv2771271, nssv2777968, nssv2768820, nssv2777095, nssv2771508, nssv2775921, nssv2777328, nssv2777667, nssv2776016, nssv2777165, nssv2770692, nssv2776679, nssv2768863, nssv2770897, nssv2775144, nssv2769441, nssv2778010, nssv2770182, nssv2772243, nssv2770722, nssv2776680, nssv2774377, nssv2777404, nssv2770934, nssv2775417, nssv2778214, nssv2775296, nssv2777050, nssv2770282, nssv2775199, nssv2775602, nssv2774425, nssv2771208, nssv2778110, nssv2769190, nssv2770529, nssv2776357, nssv2773686, nssv2775536, nssv2769540, nssv2772153, nssv2771149, nssv2773942, nssv2775027, nssv2769745, nssv2770038, nssv2772592, nssv2774986, nssv2768990, nssv2771998, nssv2770216, nssv2769149, nssv2770757, nssv2774781, nssv2778345, nssv2771895, nssv2776079, nssv2772349, nssv2770281, nssv2771251, nssv2772731, nssv2775084, nssv2775348, nssv2770288, nssv2771668, nssv2773138, nssv2768894, nssv2773075, nssv2772677, nssv2774969, nssv2769472, nssv2773260, nssv2772370, nssv2774001, nssv2777442, nssv2772004, nssv2776251, nssv2776388, nssv2776433, nssv2771764, nssv2777320, nssv2775256, nssv2771250, nssv2774719, nssv2768556, nssv2777717, nssv2769322, nssv2769359, nssv2776912, nssv2777699, nssv2769008, nssv2775284, nssv2775414, nssv2770891, nssv2773291, nssv2776095, nssv2770830, nssv2772387, nssv2772451, nssv2774674, nssv2768736, nssv2776109, nssv2777182, nssv2769798, nssv2771767, nssv2771123, nssv2773387, nssv2776890
SamplesNA07435, NA19146, NA19183, NA10831, NA11881, NA18870, NA18964, NA19248, NA12154, NA12718, NA12818, NA18863, NA19152, NA19194, NA12249, NA18861, NA21438, NA12750, NA21512, NA19214, NA21441, NA12748, NA18509, NA21490, NA11930, NA12344, NA18594, NA12802, NA19222, NA21317, NA18933, NA18952, NA19114, NA07056, NA18966, NA19173, NA19174, NA12752, NA21478, NA11920, NA21599, NA21447, NA12347, NA18501, NA19093, NA19120, NA19178, NA10839, NA18550, NA19003, NA19191, NA12264, NA18511, NA18859, NA06989, NA12340, NA21487, NA21718, NA18516, NA06993, NA21423, NA18953, NA12828, NA18517, NA18947, NA19150, NA18608, NA21403, NA21479, NA19184, NA12005, NA18489, NA12058, NA18507, NA10855, NA18860, NA21425, NA12776, NA07051, NA19257, NA21312, NA18524, NA19108, NA21361, NA18965, NA21310, NA19180, NA12341, NA12044, NA12287, NA19151, NA18873, NA19147, NA21400, NA10863, NA18632, NA19117, NA12414, NA11919, NA12763, NA21309, NA12843, NA18934, NA18508, NA19148, NA11839, NA21686, NA12282, NA21493, NA12004, NA19199, NA18566, NA11994, NA18635, NA21488, NA21615, NA18563, NA19197, NA07357, NA19107, NA21301, NA12814, NA18636, NA12740, NA18592, NA19096, NA21363, NA12273, NA12761, NA18956, NA10852, NA21453, NA18497, NA11831, NA12829, NA19256, NA21522, NA11995, NA18916, NA18593, NA19181, NA21608, NA12830, NA19100, NA12234, NA12144, NA19000, NA21442, NA12239, NA12145, NA07346, NA18620, NA19122, NA19189, NA21525, NA12892, NA18572, NA19094, NA21316, NA06985, NA12877, NA18498, NA21388, NA18486, NA18522, NA12275, NA18875, NA21455, NA18558, NA19098, NA10856, NA18504, NA21485, NA21381, NA18487, NA18942, NA18961, NA21475, NA19159, NA18910, NA18579, NA19141, NA18940, NA21401, NA11832, NA19235, NA19258, NA12891, NA18987, NA10851, NA12890, NA18582, NA18999, NA10857, NA19138, NA21476, NA10860, NA18907, NA18911, NA21439, NA12749, NA06991, NA06984, NA18867, NA12375, NA19128, NA18857, NA19115, NA12156, NA12386, NA12889, NA21389, NA10835, NA21360, NA19099, NA07022, NA12878, NA21362, NA11830, NA21366, NA10838, NA18917, NA19224, NA11993, NA12399, NA19160, NA12248, NA18499, NA18924, NA19179, NA19198, NA12817, NA19118, NA19095, NA12236, NA12717, NA12874, NA18532, NA18853, NA19204, NA18935, NA18908, NA19177, NA19249, NA06994, NA21391, NA12274, NA12832, NA12335, NA19200, NA21365, NA07000, NA19121, NA10864, NA21494
Known GenesADAMTS14
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514572
Frequency
Sample Size2366
Observed Gain109
Observed Loss146
Observed Complex0
Frequencyn/a


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