A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289



Internal ID15484560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70903175..70947999hg38UCSC Ensembl
Outerchr5:70902375..70949355hg38UCSC Ensembl
Innerchr5:70199002..70243826hg19UCSC Ensembl
Outerchr5:70198202..70245182hg19UCSC Ensembl
Innerchr5:70234758..70279582hg18UCSC Ensembl
Outerchr5:70233958..70280938hg18UCSC Ensembl
Innerchr5:70234758..70279582hg17UCSC Ensembl
Outerchr5:70233958..70280938hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3846981
hg1946981
hg1846981
hg1746981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesSERF1A, SERF1B, SMN1, SMN2
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)nssv14289
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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