A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8520



Internal ID15499746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:68379408..68398861hg38UCSC Ensembl
Outerchr9:70994324..71013777hg19UCSC Ensembl
Outerchr9:70184144..70203597hg18UCSC Ensembl
Outerchr9:68223878..68243331hg17UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3819454
hg1919454
hg1819454
hg1719454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18887
SamplesNA18563
Known GenesPGM5
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)nsv8520
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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