A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13147



Internal ID15483300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69713564..69852597hg38UCSC Ensembl
Outerchr5:69713272..69853030hg38UCSC Ensembl
Innerchr5:69009391..69148424hg19UCSC Ensembl
Outerchr5:69009099..69148857hg19UCSC Ensembl
Innerchr5:69045147..69184180hg18UCSC Ensembl
Outerchr5:69044855..69184613hg18UCSC Ensembl
Innerchr5:69045147..69184180hg17UCSC Ensembl
Outerchr5:69044855..69184613hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38139759
hg19139759
hg18139759
hg17139759
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)nssv13147
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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