A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8257



Internal ID15846169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:405046..406848hg38UCSC Ensembl
Outerchr8:355046..356848hg19UCSC Ensembl
Outerchr8:345046..346848hg18UCSC Ensembl
Outerchr8:345046..346848hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381803
hg191803
hg181803
hg171803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16695, nssv17379, nssv16863, nssv19574, nssv16292, nssv16968
SamplesNA07029, NA07048, NA18537, NA18517, NA18564, NA12740
Known GenesFBXO25
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8257
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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