A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19333



Internal ID15487060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12412390..12419015hg38UCSC Ensembl
Outerchr8:12412064..12419183hg38UCSC Ensembl
Innerchr8:12269899..12276524hg19UCSC Ensembl
Outerchr8:12269573..12276692hg19UCSC Ensembl
Innerchr8:12314270..12320895hg18UCSC Ensembl
Outerchr8:12313944..12321063hg18UCSC Ensembl
Innerchr8:12314270..12320895hg17UCSC Ensembl
Outerchr8:12313944..12321063hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387120
hg197120
hg187120
hg177120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18504
Known GenesFAM90A25P
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)nssv19333
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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