A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25980



Internal ID15487929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2225845..2383714hg38UCSC Ensembl
Outerchr20:2224399..2385324hg38UCSC Ensembl
Innerchr20:2206491..2364360hg19UCSC Ensembl
Outerchr20:2205045..2365970hg19UCSC Ensembl
Innerchr20:2154491..2312360hg18UCSC Ensembl
Outerchr20:2153045..2313970hg18UCSC Ensembl
Innerchr20:2154491..2312360hg17UCSC Ensembl
Outerchr20:2153045..2313970hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38160926
hg19160926
hg18160926
hg17160926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9781
Supporting Variants
SamplesNA18537
Known GenesTGM3, TGM6
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)nssv25980
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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