A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514714



Internal ID15813073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91486257..91490065hg38UCSC Ensembl
Innerchr13:92138511..92142319hg19UCSC Ensembl
Innerchr13:90936512..90940320hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg383809
hg193809
hg183809
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2806538, nssv2798658, nssv2807009, nssv2804173, nssv2799196, nssv2806088, nssv2805362, nssv2807984, nssv2804024, nssv2798697, nssv2806651, nssv2802835, nssv2803187, nssv2806336, nssv2807719, nssv2805150, nssv2800966, nssv2804384, nssv2805405, nssv2803356, nssv2808317, nssv2802737, nssv2800054, nssv2801107, nssv2806062, nssv2806563, nssv2805333, nssv2803413, nssv2800982, nssv2805927, nssv2803641, nssv2798838, nssv2805086, nssv2807069, nssv2799391, nssv2804279, nssv2808109, nssv2807496, nssv2801339, nssv2801705, nssv2799201, nssv2799110, nssv2800155, nssv2807317, nssv2805325, nssv2802345, nssv2804709, nssv2807826, nssv2802540, nssv2804254, nssv2800110, nssv2802228, nssv2800746, nssv2806311, nssv2798603, nssv2804353, nssv2804271, nssv2799242, nssv2805122, nssv2808175, nssv2807548, nssv2804377, nssv2803892, nssv2806060, nssv2807662, nssv2808004, nssv2807026, nssv2804630, nssv2799640, nssv2799742, nssv2808433, nssv2803037, nssv2808005, nssv2807883, nssv2801732, nssv2805655, nssv2806910, nssv2807905, nssv2804484, nssv2805019, nssv2806987, nssv2804337, nssv2804556, nssv2807783, nssv2807195, nssv2805832, nssv2803525, nssv2806680, nssv2798993, nssv2803941, nssv2802780, nssv2807536, nssv2801931, nssv2804510, nssv2799868, nssv2804818, nssv2801223, nssv2799527, nssv2802309, nssv2808470, nssv2801840, nssv2799371, nssv2802941, nssv2802458, nssv2806547, nssv2802548, nssv2808385, nssv2805255, nssv2802687, nssv2804683
SamplesNA12717, NA19222, NA19186, NA21524, NA18947, NA18862, NA10851, NA12273, NA18524, NA12414, NA18935, NA11920, NA21386, NA12832, NA21522, NA12399, NA07357, NA18969, NA12341, NA19107, NA18967, NA18563, NA19005, NA18550, NA18995, NA18558, NA18916, NA21479, NA19197, NA07347, NA12287, NA11917, NA07019, NA18868, NA19128, NA18966, NA21478, NA21716, NA18990, NA21362, NA18975, NA12375, NA18973, NA12748, NA21599, NA19247, NA19210, NA12753, NA19152, NA12878, NA12872, NA18956, NA18859, NA19205, NA19236, NA12376, NA19097, NA11839, NA21438, NA21441, NA11919, NA19177, NA19118, NA12829, NA11893, NA12892, NA18853, NA10852, NA19257, NA19225, NA19160, NA12778, NA18945, NA18576, NA18632, NA06991, NA19108, NA18961, NA12864, NA12272, NA19100, NA18992, NA21718, NA12874, NA12347, NA18594, NA07435, NA19178, NA18987, NA19093, NA10860, NA12830, NA12329, NA21312, NA18972, NA18872, NA19121, NA07056, NA19129, NA19224, NA12890, NA07000, NA07034, NA18612, NA10864, NA10837, NA19214, NA18622, NA12776, NA18620
Known GenesGPC5
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514714
Frequency
Sample Size2366
Observed Gain69
Observed Loss41
Observed Complex0
Frequencyn/a


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