A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034205



Internal ID19123427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12585534hg38UCSC Ensembl
Innerchr8:12260915..12443043hg19UCSC Ensembl
Innerchr8:12305286..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38182129
hg19182129
hg18182129
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3760155, nssv3666035, nssv3666861, nssv3666839, nssv3666841, nssv3666847, nssv3760154, nssv3666050, nssv3666825, nssv3760158, nssv3666810, nssv3666860, nssv3666851, nssv3666842, nssv3666824, nssv3666025, nssv3666853, nssv3666807, nssv3666053, nssv3760170, nssv3760162, nssv3666832, nssv3760171, nssv3666044, nssv3666850, nssv3760157, nssv3666808, nssv3666820, nssv3666813, nssv3666036, nssv3666052, nssv3666823, nssv3666862, nssv3666814, nssv3666833, nssv3666055, nssv3760153, nssv3760165, nssv3760161, nssv3666848, nssv3666027, nssv3666864, nssv3666844, nssv3666047, nssv3666060, nssv3666065, nssv3666066, nssv3666826, nssv3666811, nssv3666049, nssv3666043, nssv3666030, nssv3666857, nssv3666843, nssv3666034, nssv3666024, nssv3666835, nssv3666045, nssv3666809, nssv3666039, nssv3666033, nssv3666840, nssv3666056, nssv3666827, nssv3760163, nssv3666815, nssv3666818, nssv3666863, nssv3666046, nssv3760164, nssv3666858, nssv3666816, nssv3666838, nssv3666063, nssv3666037, nssv3760156, nssv3666812, nssv3666821, nssv3666059, nssv3666846, nssv3760169, nssv3666834, nssv3666865, nssv3666849, nssv3666805, nssv3666855, nssv3666854, nssv3666829, nssv3666061, nssv3760166, nssv3666819, nssv3666028, nssv3666057, nssv3666831, nssv3666021, nssv3760159, nssv3666023, nssv3666054, nssv3666856, nssv3760167, nssv3666040, nssv3666830, nssv3666029, nssv3666828, nssv3666817, nssv3666806, nssv3666064, nssv3666062, nssv3760168, nssv3760160, nssv3666048, nssv3666837, nssv3666041, nssv3666845, nssv3666038, nssv3666836, nssv3666852, nssv3666026, nssv3666822, nssv3666058, nssv3666051, nssv3666859, nssv3666031, nssv3666042, nssv3666032, nssv3666022
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034205
Frequency
Sample Size11257
Observed Gain97
Observed Loss29
Observed Complex0
Frequencyn/a


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