A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23503



Internal ID15493729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33785561..34005543hg38UCSC Ensembl
Outerchr16:33784797..34005775hg38UCSC Ensembl
Innerchr16:33588028..33808010hg19UCSC Ensembl
Outerchr16:33587264..33808242hg19UCSC Ensembl
Innerchr16:33495529..33715511hg18UCSC Ensembl
Outerchr16:33494765..33715743hg18UCSC Ensembl
Innerchr16:33495529..33715511hg17UCSC Ensembl
Outerchr16:33494765..33715743hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38220979
hg19220979
hg18220979
hg17220979
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)nssv23503
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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