A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13275



Internal ID15488479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70798183..70852440hg38UCSC Ensembl
Outerchr5:70797767..70852657hg38UCSC Ensembl
Innerchr5:70094010..70148267hg19UCSC Ensembl
Outerchr5:70093594..70148484hg19UCSC Ensembl
Innerchr5:70129766..70184023hg18UCSC Ensembl
Outerchr5:70129350..70184240hg18UCSC Ensembl
Innerchr5:70129766..70184023hg17UCSC Ensembl
Outerchr5:70129350..70184240hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854891
hg1954891
hg1854891
hg1754891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18537
Known GenesSMA4
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)nssv13275
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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