A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23214



Internal ID15489637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33962390..33966973hg38UCSC Ensembl
Outerchr16:33961819..33967799hg38UCSC Ensembl
Innerchr16:33764857..33769440hg19UCSC Ensembl
Outerchr16:33764286..33770266hg19UCSC Ensembl
Innerchr16:33672358..33676941hg18UCSC Ensembl
Outerchr16:33671787..33677767hg18UCSC Ensembl
Innerchr16:33672358..33676941hg17UCSC Ensembl
Outerchr16:33671787..33677767hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385981
hg195981
hg185981
hg175981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18564
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)nssv23214
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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