A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8326



Internal ID15499552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23132460..23162497hg38UCSC Ensembl
Outerchr8:22989973..23020010hg19UCSC Ensembl
Outerchr8:23045918..23075955hg18UCSC Ensembl
Outerchr8:23045918..23075955hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3830038
hg1930038
hg1830038
hg1730038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19611
SamplesNA18860
Known GenesTNFRSF10D
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)nsv8326
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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