A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13254



Internal ID15840228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17549646..17667174hg18UCSC Ensembl
Outerchr5:17548989..17667641hg18UCSC Ensembl
Innerchr5:17549646..17667174hg17UCSC Ensembl
Outerchr5:17548989..17667641hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg18118653
hg17118653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
Supporting Variants
SamplesNA18975
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)nssv13254
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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