A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23596



Internal ID15482066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55806760..55831775hg38UCSC Ensembl
Outerchr16:55806461..55833345hg38UCSC Ensembl
Innerchr16:55840672..55865687hg19UCSC Ensembl
Outerchr16:55840373..55867257hg19UCSC Ensembl
Innerchr16:54398173..54423188hg18UCSC Ensembl
Outerchr16:54397874..54424758hg18UCSC Ensembl
Innerchr16:54398173..54423188hg17UCSC Ensembl
Outerchr16:54397874..54424758hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3826885
hg1926885
hg1826885
hg1726885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9446
Supporting Variants
SamplesNA10839
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)nssv23596
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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