A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26164



Internal ID15843462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63607299..63610198hg38UCSC Ensembl
Outerchr20:63606776..63611302hg38UCSC Ensembl
Innerchr20:62238652..62241551hg19UCSC Ensembl
Outerchr20:62238129..62242655hg19UCSC Ensembl
Innerchr20:61709096..61711995hg18UCSC Ensembl
Outerchr20:61708573..61713099hg18UCSC Ensembl
Innerchr20:61709096..61711995hg17UCSC Ensembl
Outerchr20:61708573..61713099hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384527
hg194527
hg184527
hg174527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9826
Supporting Variants
SamplesNA19173
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)nssv26164
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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