A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514738



Internal ID15813097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136803..35144911hg38UCSC Ensembl
Innerchr14:35606009..35614117hg19UCSC Ensembl
Innerchr14:34675760..34683868hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg388109
hg198109
hg188109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2806631, nssv2804244, nssv2802333, nssv2802670, nssv2804389, nssv2807932, nssv2798541, nssv2803288, nssv2799243, nssv2807958, nssv2803685, nssv2804452, nssv2800487, nssv2802750, nssv2807845, nssv2799356, nssv2800788, nssv2801035, nssv2808465, nssv2798650, nssv2804877, nssv2807201, nssv2799006, nssv2807424, nssv2807633, nssv2803729, nssv2804378, nssv2798498, nssv2807077, nssv2803428, nssv2807892, nssv2805814, nssv2801756, nssv2808118, nssv2807670, nssv2803330, nssv2803178, nssv2802622, nssv2802190, nssv2806759, nssv2800673, nssv2799746, nssv2804126, nssv2800874, nssv2803313, nssv2807730, nssv2805127, nssv2801482, nssv2803458, nssv2806309, nssv2803570, nssv2799940, nssv2800166, nssv2806012, nssv2799705, nssv2798606, nssv2801821, nssv2801237, nssv2806545, nssv2801972, nssv2803608, nssv2804972, nssv2803028, nssv2799145, nssv2804234, nssv2804139, nssv2801086, nssv2807458, nssv2808002, nssv2806868, nssv2801511, nssv2806504, nssv2804890, nssv2807722, nssv2805053, nssv2806329, nssv2802004, nssv2807842, nssv2808328, nssv2805200, nssv2803790, nssv2798836, nssv2798571, nssv2800519, nssv2799049, nssv2802574, nssv2807254, nssv2802422, nssv2799970, nssv2807959, nssv2806264, nssv2803143, nssv2802725, nssv2803595, nssv2805266, nssv2800341, nssv2806169, nssv2807245, nssv2807399, nssv2799060, nssv2804979, nssv2802085
SamplesNA18998, NA11830, NA18621, NA18947, NA12286, NA10845, NA18592, NA12814, NA12273, NA12767, NA18980, NA18999, NA18545, NA18959, NA18563, NA18550, NA12802, NA18635, NA18558, NA18547, NA18960, NA11992, NA07048, NA18582, NA12283, NA18571, NA12287, NA18964, NA06993, NA12761, NA11930, NA11917, NA12282, NA12274, NA12044, NA18966, NA12889, NA12815, NA18990, NA12828, NA18975, NA18973, NA11993, NA19007, NA18605, NA12760, NA12752, NA10863, NA18991, NA12877, NA18637, NA12376, NA18948, NA18981, NA18537, NA18566, NA18573, NA19000, NA18532, NA12827, NA12264, NA12817, NA18555, NA12766, NA19225, NA12778, NA10856, NA18570, NA12546, NA18945, NA19012, NA18974, NA18953, NA19003, NA18978, NA18632, NA06991, NA19108, NA18961, NA18952, NA12775, NA07051, NA18992, NA12763, NA07055, NA19109, NA18971, NA18609, NA12875, NA21614, NA18552, NA21363, NA19224, NA18968, NA18624, NA12890, NA18612, NA10837, NA18622, NA18562, NA18965, NA18997
Known GenesKIAA0391
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514738
Frequency
Sample Size2366
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


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