A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470981



Internal ID15210854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133365107..133620799hg38UCSC Ensembl
Innerchr10:135178611..135434303hg19UCSC Ensembl
Innerchr10:135028601..135284293hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38255693
hg19255693
hg18255693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545048, nssv545041, nssv545067, nssv545057, nssv545058, nssv545034, nssv545052, nssv545040, nssv545049, nssv545037, nssv545042, nssv545060, nssv545066, nssv545051, nssv545068, nssv545044, nssv545061, nssv545035, nssv545055, nssv545063, nssv545038, nssv545059, nssv545062, nssv545053, nssv545050, nssv545045, nssv545036, nssv545033, nssv545039, nssv545046, nssv545056, nssv545047, nssv545064
SamplesHGDP00470, HGDP00621, HGDP00713, HGDP00479, HGDP00904, HGDP00475, HGDP01199, HGDP00451, HGDP00881, HGDP01088, HGDP00066, HGDP00891, HGDP00939, HGDP00062, HGDP00926, HGDP00459, HGDP00653, HGDP00473, HGDP01261, HGDP00602, HGDP00879, HGDP00458, HGDP00388, HGDP00466, HGDP01359, HGDP00686, HGDP01358, HGDP00688, HGDP00456, HGDP01036, HGDP00474, HGDP00940, HGDP00875
Known GenesCYP2E1, ECHS1, MIR3944, MTG1, PAOX, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisWe used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.
PlatformIllumina HumanHap550 Genotyping BeadChip v3
CommentsSingle-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv470981
Frequency
Sample Size443
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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