A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27791



Internal ID15486411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63587575..63597493hg38UCSC Ensembl
Outerchr20:63587143..63598222hg38UCSC Ensembl
Innerchr20:62218928..62228846hg19UCSC Ensembl
Outerchr20:62218496..62229575hg19UCSC Ensembl
Innerchr20:61689372..61699290hg18UCSC Ensembl
Outerchr20:61688940..61700019hg18UCSC Ensembl
Innerchr20:61689372..61699290hg17UCSC Ensembl
Outerchr20:61688940..61700019hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3811080
hg1911080
hg1811080
hg1711080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9825
Supporting Variants
SamplesNA18502
Known GenesGMEB2
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)nssv27791
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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