A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16494



Internal ID15493694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18999170..18999787hg38UCSC Ensembl
Outerchr8:18998348..19000452hg38UCSC Ensembl
Innerchr8:18856680..18857297hg19UCSC Ensembl
Outerchr8:18855858..18857962hg19UCSC Ensembl
Innerchr8:18900960..18901577hg18UCSC Ensembl
Outerchr8:18900138..18902242hg18UCSC Ensembl
Innerchr8:18900960..18901577hg17UCSC Ensembl
Outerchr8:18900138..18902242hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382105
hg192105
hg182105
hg172105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8310
Supporting Variants
SamplesNA18975
Known GenesPSD3
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)nssv16494
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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