A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13953



Internal ID15481529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71141127..71195376hg38UCSC Ensembl
Outerchr5:71140909..71195791hg38UCSC Ensembl
Innerchr5:70436954..70491203hg19UCSC Ensembl
Outerchr5:70436736..70491618hg19UCSC Ensembl
Innerchr5:70472710..70526959hg18UCSC Ensembl
Outerchr5:70472492..70527374hg18UCSC Ensembl
Innerchr5:70472710..70526959hg17UCSC Ensembl
Outerchr5:70472492..70527374hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854883
hg1954883
hg1854883
hg1754883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
Known Genes
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)nssv13953
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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