A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13588



Internal ID15496075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69989010..70114737hg38UCSC Ensembl
Outerchr5:69988050..70117062hg38UCSC Ensembl
Innerchr5:69284837..69410564hg19UCSC Ensembl
Outerchr5:69283877..69412889hg19UCSC Ensembl
Innerchr5:69320593..69446320hg18UCSC Ensembl
Outerchr5:69319633..69448645hg18UCSC Ensembl
Innerchr5:69320593..69446320hg17UCSC Ensembl
Outerchr5:69319633..69448645hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38129013
hg19129013
hg18129013
hg17129013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19144
Known GenesSERF1A, SERF1B, SMA4, 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)nssv13588
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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