A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514057



Internal ID15465755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999421..33002119hg38UCSC Ensembl
Innerchr2:33224488..33227186hg19UCSC Ensembl
Innerchr2:33077992..33080690hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2883056, nssv2883229, nssv2883209, nssv2883234, nssv2883123, nssv2883036, nssv2883033, nssv2883190, nssv2883166, nssv2883162, nssv2883171, nssv2883217, nssv2883221, nssv2883172, nssv2883078, nssv2883049, nssv2883219, nssv2883173, nssv2883176, nssv2883205, nssv2883157, nssv2883091, nssv2883099, nssv2883134, nssv2883022, nssv2883055, nssv2883150, nssv2883092, nssv2883156, nssv2883063, nssv2883140, nssv2883151, nssv2883168, nssv2883120, nssv2883042, nssv2883095, nssv2883169, nssv2883072, nssv2883041, nssv2883111, nssv2883086, nssv2883178, nssv2883199, nssv2883240, nssv2883037, nssv2883161, nssv2883235, nssv2883052, nssv2883129, nssv2883191, nssv2883214, nssv2883081, nssv2883154, nssv2883021, nssv2883073, nssv2883182, nssv2883194, nssv2883019, nssv2883236, nssv2883060, nssv2883148, nssv2883204, nssv2883128, nssv2883141, nssv2883196, nssv2883237, nssv2883079, nssv2883188, nssv2883109, nssv2883170, nssv2883139, nssv2883101, nssv2883105, nssv2883047, nssv2883075, nssv2883130, nssv2883195, nssv2883200, nssv2883202, nssv2883233, nssv2883039, nssv2883084, nssv2883155, nssv2883153, nssv2883218, nssv2883050, nssv2883160, nssv2883175, nssv2883018, nssv2883045, nssv2883187, nssv2883083, nssv2883046, nssv2883117, nssv2883023, nssv2883074, nssv2883197, nssv2883093, nssv2883132, nssv2883145, nssv2883110, nssv2883223, nssv2883094, nssv2883103, nssv2883225, nssv2883034, nssv2883231, nssv2883104, nssv2883149, nssv2883177, nssv2883147, nssv2883232, nssv2883031, nssv2883184, nssv2883227, nssv2883211, nssv2883185, nssv2883220, nssv2883068, nssv2883228, nssv2883136, nssv2883201, nssv2883192, nssv2883026, nssv2883076, nssv2883113, nssv2883053, nssv2883071, nssv2883135, nssv2883082, nssv2883057, nssv2883119, nssv2883203, nssv2883089, nssv2883087, nssv2883138, nssv2883159, nssv2883163, nssv2883102, nssv2883143, nssv2883038, nssv2883239, nssv2883186, nssv2883061, nssv2883241, nssv2883028, nssv2883062, nssv2883088, nssv2883133, nssv2883100, nssv2883025, nssv2883179, nssv2883174, nssv2883106, nssv2883044, nssv2883112, nssv2883066, nssv2883180, nssv2883048, nssv2883097, nssv2883126, nssv2883122, nssv2883030, nssv2883032, nssv2883027, nssv2883054, nssv2883206, nssv2883070, nssv2883144, nssv2883158, nssv2883193, nssv2883146, nssv2883020, nssv2883152, nssv2883024, nssv2883181, nssv2883125, nssv2883198, nssv2883222, nssv2883067, nssv2883069, nssv2883051, nssv2883098, nssv2883216, nssv2883035, nssv2883040, nssv2883096, nssv2883059, nssv2883118, nssv2883137, nssv2883090, nssv2883226, nssv2883167, nssv2883043, nssv2883127, nssv2883165, nssv2883116, nssv2883124, nssv2883212, nssv2883077, nssv2883183, nssv2883230, nssv2883065, nssv2883207, nssv2883210, nssv2883238, nssv2883029, nssv2883114, nssv2883208, nssv2883224, nssv2883115, nssv2883107, nssv2883108, nssv2883131, nssv2883121, nssv2883142, nssv2883189, nssv2883213, nssv2883085, nssv2883058, nssv2883080, nssv2883064, nssv2883215, nssv2883164
SamplesNA07435, NA19012, NA21634, NA10831, NA12827, NA18621, NA18964, NA12154, NA12718, NA12818, NA12043, NA18605, NA21438, NA10843, NA21441, NA12748, NA11930, NA21390, NA18594, NA19222, NA21317, NA21580, NA18952, NA18975, NA19114, NA07056, NA19252, NA12752, NA18612, NA12347, NA18501, NA18500, NA21307, NA10839, NA11918, NA21404, NA18550, NA18570, NA19003, NA19191, NA18859, NA18545, NA18603, NA21487, NA21718, NA18948, NA12813, NA06993, NA21423, NA18953, NA18969, NA18972, NA12828, NA18947, NA18608, NA07019, NA12005, NA21386, NA19144, NA07348, NA10855, NA21425, NA07051, NA21454, NA10837, NA21312, NA18524, NA18965, NA12044, NA12287, NA19147, NA21400, NA18632, NA12414, NA11919, NA21309, NA18998, NA18624, NA18934, NA18967, NA19239, NA12056, NA18992, NA11839, NA11840, NA07034, NA12004, NA11994, NA18635, NA21488, NA21716, NA18576, NA18622, NA18960, NA18563, NA07357, NA19107, NA18990, NA21301, NA12814, NA18636, NA18592, NA21363, NA12273, NA18956, NA18959, NA18609, NA18497, NA18547, NA12329, NA11831, NA12829, NA11894, NA18637, NA18973, NA11995, NA18593, NA19181, NA12830, NA19100, NA21399, NA18970, NA19190, NA19000, NA21442, NA19247, NA12239, NA19153, NA18518, NA18620, NA19189, NA07014, NA12892, NA18633, NA18572, NA21316, NA06985, NA12348, NA18498, NA21388, NA18968, NA19102, NA06986, NA19005, NA12485, NA18558, NA19154, NA10856, NA21303, NA21485, NA18978, NA21381, NA11892, NA18564, NA18942, NA18961, NA18997, NA19221, NA10836, NA21581, NA12283, NA18562, NA18910, NA18974, NA21440, NA18940, NA21401, NA11832, NA19235, NA18987, NA10851, NA12890, NA18582, NA18999, NA10857, NA21635, NA21476, NA18911, NA18995, NA21344, NA06991, NA06984, NA12375, NA19115, NA12156, NA06995, NA12889, NA21389, NA21360, NA19123, NA18971, NA21383, NA10830, NA10845, NA18577, NA19099, NA12878, NA11830, NA11992, NA19224, NA11993, NA12248, NA18499, NA18571, NA12817, NA19118, NA18611, NA12236, NA19240, NA12874, NA18532, NA19204, NA18981, NA19249, NA21387, NA21391, NA12274, NA12760, NA18555, NA19007, NA19121, NA18980, NA21636, NA21526
Known GenesLTBP1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514057
Frequency
Sample Size2366
Observed Gain0
Observed Loss224
Observed Complex0
Frequencyn/a


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