A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15473



Internal ID15492633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55768082..55780361hg38UCSC Ensembl
Outerchr5:55767703..55785807hg38UCSC Ensembl
Innerchr5:55063910..55076189hg19UCSC Ensembl
Outerchr5:55063531..55081635hg19UCSC Ensembl
Innerchr5:55099667..55111946hg18UCSC Ensembl
Outerchr5:55099288..55117392hg18UCSC Ensembl
Innerchr5:55099667..55111946hg17UCSC Ensembl
Outerchr5:55099288..55117392hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3818105
hg1918105
hg1818105
hg1718105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10698
Supporting Variants
SamplesNA18972
Known GenesDDX4
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)nssv15473
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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