A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8399



Internal ID15846311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:145052007..145053279hg38UCSC Ensembl
Outerchr8:146277393..146278665hg19UCSC Ensembl
Outerchr8:146248197..146249469hg18UCSC Ensembl
Outerchr8:146248197..146249469hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381273
hg191273
hg181273
hg171273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21720
SamplesNA19221
Known GenesC8orf33
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)nsv8399
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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