A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20569



Internal ID15490501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55810663..55811121hg38UCSC Ensembl
Outerchr16:55809665..55813035hg38UCSC Ensembl
Innerchr16:55844575..55845033hg19UCSC Ensembl
Outerchr16:55843577..55846947hg19UCSC Ensembl
Innerchr16:54402076..54402534hg18UCSC Ensembl
Outerchr16:54401078..54404448hg18UCSC Ensembl
Innerchr16:54402076..54402534hg17UCSC Ensembl
Outerchr16:54401078..54404448hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383371
hg193371
hg183371
hg173371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9446
Supporting Variants
SamplesNA18572
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)nssv20569
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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