A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8378



Internal ID15846290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:116617128..116620952hg38UCSC Ensembl
Outerchr8:117629367..117633191hg19UCSC Ensembl
Outerchr8:117698548..117702372hg18UCSC Ensembl
Outerchr8:117698548..117702372hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383825
hg193825
hg183825
hg173825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365
SamplesNA18980
Known Genes
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)nsv8378
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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