A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20375



Internal ID15482378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32241521..32241524hg38UCSC Ensembl
Outerchr16:32240631..32241586hg38UCSC Ensembl
Innerchr16:32252842..32252845hg19UCSC Ensembl
Outerchr16:32251952..32252907hg19UCSC Ensembl
Innerchr16:32160343..32160346hg18UCSC Ensembl
Outerchr16:32159453..32160408hg18UCSC Ensembl
Innerchr16:32160343..32160346hg17UCSC Ensembl
Outerchr16:32159453..32160408hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38956
hg19956
hg18956
hg17956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA10847
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)nssv20375
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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