A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13490



Internal ID15490806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70903175..70916773hg38UCSC Ensembl
Outerchr5:70902375..70918430hg38UCSC Ensembl
Innerchr5:70199002..70212600hg19UCSC Ensembl
Outerchr5:70198202..70214257hg19UCSC Ensembl
Innerchr5:70234758..70248356hg18UCSC Ensembl
Outerchr5:70233958..70250013hg18UCSC Ensembl
Innerchr5:70234758..70248356hg17UCSC Ensembl
Outerchr5:70233958..70250013hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3816056
hg1916056
hg1816056
hg1716056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18853
Known GenesSERF1A, SERF1B
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)nssv13490
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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