A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047194



Internal ID19136413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..22300068hg38UCSC Ensembl
Innerchr15:20216943..22588019hg19UCSC Ensembl
Innerchr15:18476957..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382288379
hg192371077
hg181612427
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n100
Supporting Variantsnssv3715814, nssv3537130, nssv3537120, nssv3537052, nssv3715811, nssv3537054, nssv3537041, nssv3537129, nssv3715786, nssv3537084, nssv3537114, nssv3537038, nssv3537081, nssv3715793, nssv3537068, nssv3537087, nssv3537065, nssv3537042, nssv3715795, nssv3715801, nssv3537103, nssv3537096, nssv3537036, nssv3715784, nssv3537095, nssv3537063, nssv3537047, nssv3715790, nssv3537099, nssv3537127, nssv3537115, nssv3715789, nssv3537108, nssv3715791, nssv3537039, nssv3537128, nssv3715799, nssv3537079, nssv3537085, nssv3537072, nssv3537123, nssv3537112, nssv3537046, nssv3537051, nssv3537080, nssv3537069, nssv3537104, nssv3537056, nssv3537090, nssv3537088, nssv3537067, nssv3715807, nssv3537121, nssv3537058, nssv3537043, nssv3715818, nssv3715794, nssv3537074, nssv3715797, nssv3537092, nssv3537050, nssv3537094, nssv3537060, nssv3537048, nssv3537086, nssv3715812, nssv3537126, nssv3715792, nssv3537061, nssv3715813, nssv3715817, nssv3715796, nssv3537098, nssv3537122, nssv3537034, nssv3537109, nssv3537049, nssv3537070, nssv3537116, nssv3537105, nssv3537110, nssv3715806, nssv3537111, nssv3537113, nssv3537045, nssv3715816, nssv3537091, nssv3537117, nssv3537057, nssv3715815, nssv3715809, nssv3537097, nssv3537066, nssv3715802, nssv3537055, nssv3537078, nssv3715787, nssv3715819, nssv3537073, nssv3537125, nssv3715804, nssv3715785, nssv3537083, nssv3537077, nssv3715798, nssv3537119, nssv3537053, nssv3537044, nssv3537035, nssv3715800, nssv3537106, nssv3715808, nssv3537059, nssv3537124, nssv3537118, nssv3537062, nssv3537089, nssv3537071, nssv3537064, nssv3715788, nssv3537093, nssv3537101, nssv3537082, nssv3537075, nssv3715810, nssv3537037, nssv3537100, nssv3537076, nssv3537102, nssv3537040, nssv3537107, nssv3715803, nssv3715805
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047194
Frequency
Sample Size11257
Observed Gain71
Observed Loss62
Observed Complex0
Frequencyn/a


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