A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23729



Internal ID15493873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55808493..55826557hg38UCSC Ensembl
Outerchr16:55808032..55828253hg38UCSC Ensembl
Innerchr16:55842405..55860469hg19UCSC Ensembl
Outerchr16:55841944..55862165hg19UCSC Ensembl
Innerchr16:54399906..54417970hg18UCSC Ensembl
Outerchr16:54399445..54419666hg18UCSC Ensembl
Innerchr16:54399906..54417970hg17UCSC Ensembl
Outerchr16:54399445..54419666hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3820222
hg1920222
hg1820222
hg1720222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9446
Supporting Variants
SamplesNA18980
Known GenesCES1
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)nssv23729
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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