A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13485



Internal ID15488155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71141127..71194053hg38UCSC Ensembl
Outerchr5:71140909..71194602hg38UCSC Ensembl
Innerchr5:70436954..70489880hg19UCSC Ensembl
Outerchr5:70436736..70490429hg19UCSC Ensembl
Innerchr5:70472710..70525636hg18UCSC Ensembl
Outerchr5:70472492..70526185hg18UCSC Ensembl
Innerchr5:70472710..70525636hg17UCSC Ensembl
Outerchr5:70472492..70526185hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3853694
hg1953694
hg1853694
hg1753694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18537
Known Genes
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)nssv13485
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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