A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13741



Internal ID15497980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:879133..881449hg38UCSC Ensembl
Outerchr5:878084..883638hg38UCSC Ensembl
Innerchr5:879248..881564hg19UCSC Ensembl
Outerchr5:878199..883753hg19UCSC Ensembl
Innerchr5:932248..934564hg18UCSC Ensembl
Outerchr5:931199..936753hg18UCSC Ensembl
Innerchr5:932248..934564hg17UCSC Ensembl
Outerchr5:931199..936753hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385555
hg195555
hg185555
hg175555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA19240
Known GenesBRD9
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)nssv13741
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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