A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26469



Internal ID15493024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70111551..70198469hg38UCSC Ensembl
Outerchr16:70110189..70201429hg38UCSC Ensembl
Innerchr16:70145454..70232372hg19UCSC Ensembl
Outerchr16:70144092..70235332hg19UCSC Ensembl
Innerchr16:68702955..68789873hg18UCSC Ensembl
Outerchr16:68701593..68792833hg18UCSC Ensembl
Innerchr16:68702955..68789873hg17UCSC Ensembl
Outerchr16:68701593..68792833hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3891241
hg1991241
hg1891241
hg1791241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9455
Supporting Variants
SamplesNA18972
Known GenesCLEC18C, PDPR
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)nssv26469
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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