A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8253



Internal ID15846165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70326..186606hg38UCSC Ensembl
Outerchr8:20326..136606hg19UCSC Ensembl
Outerchr8:10326..126606hg18UCSC Ensembl
Outerchr8:10326..126606hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38116281
hg19116281
hg18116281
hg17116281
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17136, nssv17249, nssv15665, nssv15580, nssv15011, nssv18921, nssv17279, nssv16665, nssv16657, nssv16294, nssv15259, nssv16687
SamplesNA11830, NA12802, NA18860, NA10839, NA10847, NA10863, NA12872, NA18572, NA18537, NA19173
Known GenesOR4F21
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)nsv8253
Frequency
Sample Size31
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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