A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20509



Internal ID15836981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762591..55770810hg38UCSC Ensembl
Outerchr16:55762006..55772288hg38UCSC Ensembl
Innerchr16:55796503..55804722hg19UCSC Ensembl
Outerchr16:55795918..55806200hg19UCSC Ensembl
Innerchr16:54354004..54362223hg18UCSC Ensembl
Outerchr16:54353419..54363701hg18UCSC Ensembl
Innerchr16:54354004..54362223hg17UCSC Ensembl
Outerchr16:54353419..54363701hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3810283
hg1910283
hg1810283
hg1710283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9445
Supporting Variants
SamplesNA18572
Known GenesCES1P1
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)nssv20509
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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