A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13863



Internal ID15481298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70855730..70923010hg38UCSC Ensembl
Outerchr5:70855580..70923718hg38UCSC Ensembl
Innerchr5:70151557..70218837hg19UCSC Ensembl
Outerchr5:70151407..70219545hg19UCSC Ensembl
Innerchr5:70187313..70254593hg18UCSC Ensembl
Outerchr5:70187163..70255301hg18UCSC Ensembl
Innerchr5:70187313..70254593hg17UCSC Ensembl
Outerchr5:70187163..70255301hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3868139
hg1968139
hg1868139
hg1768139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
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)nssv13863
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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