A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8360



Internal ID15846272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71301425..71305936hg38UCSC Ensembl
Outerchr8:72213660..72218171hg19UCSC Ensembl
Outerchr8:72376214..72380725hg18UCSC Ensembl
Outerchr8:72376214..72380725hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384512
hg194512
hg184512
hg174512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245, nssv17587, nssv18159, nssv19182, nssv16210, nssv17295
SamplesNA18502, NA11830, NA18980, NA12802, NA18537, NA12740
Known GenesEYA1
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)nsv8360
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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