A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13267



Internal ID15483315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70464921..70481848hg38UCSC Ensembl
Outerchr5:70464852..70482100hg38UCSC Ensembl
Innerchr5:69760748..69777675hg19UCSC Ensembl
Outerchr5:69760679..69777927hg19UCSC Ensembl
Innerchr5:69796504..69813431hg18UCSC Ensembl
Outerchr5:69796435..69813683hg18UCSC Ensembl
Innerchr5:69796504..69813431hg17UCSC Ensembl
Outerchr5:69796435..69813683hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817249
hg1917249
hg1817249
hg1717249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA11830
Known GenesSMA4, SMA5
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)nssv13267
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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