A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514850



Internal ID15813209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088336..46214185hg38UCSC Ensembl
Innerchr17:44165702..44291551hg19UCSC Ensembl
Innerchr17:41521520..41647328hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38125850
hg19125850
hg18125809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2833252, nssv2833259, nssv2834061, nssv2834071, nssv2834049, nssv2833286, nssv2833260, nssv2833278, nssv2834067, nssv2834066, nssv2834098, nssv2834042, nssv2834048, nssv2834030, nssv2834087, nssv2834090, nssv2834084, nssv2834044, nssv2833287, nssv2834092, nssv2834038, nssv2833271, nssv2834102, nssv2834083, nssv2834094, nssv2833268, nssv2834079, nssv2834064, nssv2834041, nssv2834056, nssv2834057, nssv2833276, nssv2834103, nssv2834072, nssv2834081, nssv2834032, nssv2833288, nssv2833255, nssv2834093, nssv2834069, nssv2833258, nssv2834040, nssv2834107, nssv2833265, nssv2833257, nssv2834052, nssv2834086, nssv2834089, nssv2834045, nssv2834068, nssv2833282, nssv2833280, nssv2834059, nssv2834096, nssv2834046, nssv2834035, nssv2833267, nssv2834063, nssv2834054, nssv2834058, nssv2834053, nssv2833261, nssv2834073, nssv2834034, nssv2834106, nssv2834076, nssv2834047, nssv2833291, nssv2833277, nssv2834033, nssv2834062, nssv2833283, nssv2834060, nssv2833273, nssv2834091, nssv2834099, nssv2834039, nssv2834082, nssv2834050, nssv2834095, nssv2833281, nssv2833275, nssv2833266, nssv2834070, nssv2833289, nssv2833256, nssv2834088, nssv2833263, nssv2834101, nssv2834075, nssv2834055, nssv2833254, nssv2833279, nssv2834104, nssv2834043, nssv2833272, nssv2834100, nssv2833285, nssv2834080, nssv2834065, nssv2833284, nssv2833274, nssv2834105, nssv2834036, nssv2833270, nssv2833262, nssv2834097, nssv2833269, nssv2833290, nssv2834077, nssv2834074, nssv2834085, nssv2833264, nssv2834037, nssv2834031, nssv2833253, nssv2834078, nssv2834051
SamplesNA12383, NA12717, NA12286, NA11995, NA10845, NA12273, NA12767, NA12236, NA12843, NA11920, NA12344, NA12045, NA12751, NA12340, NA12248, NA12146, NA12832, NA12399, NA12155, NA12813, NA07346, NA12812, NA10835, NA10846, NA12336, NA12891, NA12348, NA11992, NA07048, NA11918, NA07347, NA12283, NA12287, NA06993, NA12761, NA11917, NA12282, NA12275, NA12005, NA07019, NA12274, NA12156, NA06984, NA21512, NA12044, NA11994, NA10850, NA12889, NA12815, NA10855, NA21601, NA12828, NA10839, NA12748, NA11993, NA10847, NA21599, NA12777, NA12335, NA12752, NA07022, NA12753, NA10836, NA10863, NA10831, NA12878, NA12872, NA12718, NA11839, NA12234, NA11919, NA07031, NA12386, NA11893, NA11894, NA10830, NA12892, NA12239, NA06989, NA12264, NA12817, NA10852, NA12766, NA12144, NA06985, NA12778, NA12043, NA21608, NA06995, NA11882, NA11881, NA12864, NA10859, NA12272, NA12873, NA21615, NA10840, NA12874, NA07348, NA07037, NA12763, NA07055, NA12347, NA06986, NA12740, NA06994, NA10843, NA07349, NA12749, NA10860, NA12329, NA11892, NA12890, NA21514, NA10864, NA10837, NA12776, NA11832
Known GenesKANSL1, KANSL1-AS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514850
Frequency
Sample Size2366
Observed Gain118
Observed Loss0
Observed Complex0
Frequencyn/a


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