A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8309



Internal ID15499535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18987118..18990806hg38UCSC Ensembl
Outerchr8:18844628..18848316hg19UCSC Ensembl
Outerchr8:18888908..18892596hg18UCSC Ensembl
Outerchr8:18888908..18892596hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383689
hg193689
hg183689
hg173689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282
SamplesNA18942
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)nsv8309
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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