A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23051



Internal ID15494146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31951706..32081317hg38UCSC Ensembl
Outerchr16:31951186..32081611hg38UCSC Ensembl
Innerchr16:31963027..32092638hg19UCSC Ensembl
Outerchr16:31962507..32092932hg19UCSC Ensembl
Innerchr16:31870528..32000139hg18UCSC Ensembl
Outerchr16:31870008..32000433hg18UCSC Ensembl
Innerchr16:31870528..32000139hg17UCSC Ensembl
Outerchr16:31870008..32000433hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38130426
hg19130426
hg18130426
hg17130426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18980
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)nssv23051
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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