A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25573



Internal ID15490156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63919494..63919913hg38UCSC Ensembl
Outerchr20:63918561..63920466hg38UCSC Ensembl
Innerchr20:62550847..62551266hg19UCSC Ensembl
Outerchr20:62549914..62551819hg19UCSC Ensembl
Innerchr20:62021291..62021710hg18UCSC Ensembl
Outerchr20:62020358..62022263hg18UCSC Ensembl
Innerchr20:62021291..62021710hg17UCSC Ensembl
Outerchr20:62020358..62022263hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381906
hg191906
hg181906
hg171906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9829
Supporting Variants
SamplesNA18564
Known GenesDNAJC5, MIR941-1, MIR941-2, MIR941-3, MIR941-4
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)nssv25573
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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