A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13816



Internal ID15488733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71250454..71343431hg38UCSC Ensembl
Outerchr5:71250111..71343770hg38UCSC Ensembl
Innerchr5:70546281..70639258hg19UCSC Ensembl
Outerchr5:70545938..70639597hg19UCSC Ensembl
Innerchr5:70582037..70675014hg18UCSC Ensembl
Outerchr5:70581694..70675353hg18UCSC Ensembl
Innerchr5:70582037..70675014hg17UCSC Ensembl
Outerchr5:70581694..70675353hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3893660
hg1993660
hg1893660
hg1793660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGUSBP9
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)nssv13816
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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