A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28060



Internal ID15497103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33118713..33144534hg38UCSC Ensembl
Outerchr16:33116955..33145030hg38UCSC Ensembl
Innerchr16:33130034..33155855hg19UCSC Ensembl
Outerchr16:33128276..33156351hg19UCSC Ensembl
Innerchr16:33037535..33063356hg18UCSC Ensembl
Outerchr16:33035777..33063852hg18UCSC Ensembl
Innerchr16:33037535..33063356hg17UCSC Ensembl
Outerchr16:33035777..33063852hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3828076
hg1928076
hg1828076
hg1728076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19221
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)nssv28060
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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