A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13836



Internal ID15483058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71291625..71356247hg38UCSC Ensembl
Outerchr5:71291264..71356276hg38UCSC Ensembl
Innerchr5:70587452..70652074hg19UCSC Ensembl
Outerchr5:70587091..70652103hg19UCSC Ensembl
Innerchr5:70623208..70687830hg18UCSC Ensembl
Outerchr5:70622847..70687859hg18UCSC Ensembl
Innerchr5:70623208..70687830hg17UCSC Ensembl
Outerchr5:70622847..70687859hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3865013
hg1965013
hg1865013
hg1765013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
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)nssv13836
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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