A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13447



Internal ID15483339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71281900..71363807hg38UCSC Ensembl
Outerchr5:71281471..71364075hg38UCSC Ensembl
Innerchr5:70577727..70659634hg19UCSC Ensembl
Outerchr5:70577298..70659902hg19UCSC Ensembl
Innerchr5:70613483..70695390hg18UCSC Ensembl
Outerchr5:70613054..70695658hg18UCSC Ensembl
Innerchr5:70613483..70695390hg17UCSC Ensembl
Outerchr5:70613054..70695658hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3882605
hg1982605
hg1882605
hg1782605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA11830
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)nssv13447
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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