A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015493



Internal ID19104710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39526593hg38UCSC Ensembl
Innerchr8:39235591..39384112hg19UCSC Ensembl
Innerchr8:39354748..39503269hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38148522
hg19148522
hg18148522
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3684724, nssv3684831, nssv3684821, nssv3684905, nssv3684735, nssv3684922, nssv3684862, nssv3684899, nssv3684718, nssv3684889, nssv3684817, nssv3684762, nssv3684746, nssv3684757, nssv3684855, nssv3684812, nssv3684766, nssv3684731, nssv3684781, nssv3684869, nssv3684939, nssv3684958, nssv3684803, nssv3684800, nssv3684921, nssv3684944, nssv3686084, nssv3684931, nssv3684744, nssv3684860, nssv3684839, nssv3684791, nssv3684912, nssv3684896, nssv3684898, nssv3684845, nssv3684740, nssv3757920, nssv3684767, nssv3684892, nssv3684854, nssv3684743, nssv3684840, nssv3684747, nssv3684940, nssv3757921, nssv3684748, nssv3757934, nssv3684949, nssv3757940, nssv3684891, nssv3684729, nssv3684852, nssv3684828, nssv3684850, nssv3684806, nssv3684858, nssv3684814, nssv3684805, nssv3757928, nssv3684843, nssv3684846, nssv3684810, nssv3684749, nssv3684844, nssv3684824, nssv3684793, nssv3684927, nssv3684874, nssv3684751, nssv3757926, nssv3684792, nssv3684784, nssv3684786, nssv3684915, nssv3684754, nssv3684913, nssv3686076, nssv3684956, nssv3686080, nssv3684886, nssv3684870, nssv3684894, nssv3757930, nssv3684787, nssv3684753, nssv3684763, nssv3684924, nssv3684878, nssv3684867, nssv3684759, nssv3684730, nssv3684745, nssv3684797, nssv3684911, nssv3684943, nssv3684941, nssv3686074, nssv3684783, nssv3684863, nssv3684750, nssv3686070, nssv3684752, nssv3757936, nssv3684923, nssv3684764, nssv3684779, nssv3684908, nssv3684833, nssv3684780, nssv3757922, nssv3684796, nssv3684893, nssv3684734, nssv3684954, nssv3684859, nssv3684830, nssv3684934, nssv3684947, nssv3684848, nssv3684822, nssv3684937, nssv3684907, nssv3684808, nssv3686073, nssv3684851, nssv3757931, nssv3684836, nssv3684739, nssv3757913, nssv3757941, nssv3684835, nssv3684920, nssv3757932, nssv3757929, nssv3684884, nssv3684955, nssv3684816, nssv3684790, nssv3684778, nssv3684798, nssv3684772, nssv3684928, nssv3684888, nssv3684725, nssv3684794, nssv3686078, nssv3684782, nssv3684933, nssv3684774, nssv3757919, nssv3757916, nssv3684890, nssv3684765, nssv3684773, nssv3684942, nssv3684900, nssv3684919, nssv3757927, nssv3684837, nssv3684917, nssv3684825, nssv3684799, nssv3684950, nssv3684936, nssv3684823, nssv3684820, nssv3684775, nssv3684776, nssv3684720, nssv3684809, nssv3684881, nssv3684864, nssv3684760, nssv3684945, nssv3684717, nssv3684909, nssv3684871, nssv3757915, nssv3684819, nssv3684755, nssv3684865, nssv3684758, nssv3684916, nssv3684795, nssv3684737, nssv3686068, nssv3684903, nssv3684882, nssv3684811, nssv3684953, nssv3757943, nssv3684722, nssv3684856, nssv3684902, nssv3684728, nssv3684876, nssv3684771, nssv3684875, nssv3757945, nssv3757939, nssv3757918, nssv3684804, nssv3684802, nssv3684732, nssv3757924, nssv3684801, nssv3684901, nssv3757923, nssv3684770, nssv3757938, nssv3684829, nssv3684716, nssv3684930, nssv3684873, nssv3684910, nssv3684736, nssv3684880, nssv3686079, nssv3684957, nssv3684872, nssv3684756, nssv3757935, nssv3684868, nssv3684832, nssv3684738, nssv3684842, nssv3684929, nssv3684847, nssv3684885, nssv3684904, nssv3684726, nssv3684826, nssv3684866, nssv3684815, nssv3684818, nssv3686072, nssv3686071, nssv3684932, nssv3684861, nssv3686067, nssv3684906, nssv3684895, nssv3684834, nssv3684914, nssv3684807, nssv3684785, nssv3684813, nssv3686082, nssv3684946, nssv3684918, nssv3684741, nssv3757942, nssv3684761, nssv3686083, nssv3684887, nssv3684938, nssv3757917, nssv3684849, nssv3757925, nssv3684935, nssv3684777, nssv3686069, nssv3686077, nssv3684727, nssv3684719, nssv3684733, nssv3684838, nssv3684768, nssv3684742, nssv3684926, nssv3757937, nssv3684951, nssv3684841, nssv3684952, nssv3684853, nssv3757933, nssv3686075, nssv3684877, nssv3686081, nssv3684925, nssv3684789, nssv3684721, nssv3684788, nssv3684723, nssv3684959, nssv3757914, nssv3684879, nssv3684769, nssv3684897, nssv3757944, nssv3684827, nssv3684948, nssv3684883, nssv3684857
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015493
Frequency
Sample Size11257
Observed Gain156
Observed Loss139
Observed Complex0
Frequencyn/a


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