A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13237



Internal ID15483311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70293288..70412598hg38UCSC Ensembl
Outerchr5:70292996..70413001hg38UCSC Ensembl
Innerchr5:69589115..69708425hg19UCSC Ensembl
Outerchr5:69588823..69708828hg19UCSC Ensembl
Innerchr5:69624871..69744181hg18UCSC Ensembl
Outerchr5:69624579..69744584hg18UCSC Ensembl
Innerchr5:69624871..69744181hg17UCSC Ensembl
Outerchr5:69624579..69744584hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38120006
hg19120006
hg18120006
hg17120006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA11830
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)nssv13237
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer