A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25577



Internal ID15493902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2374883..2375729hg38UCSC Ensembl
Outerchr20:2374274..2376119hg38UCSC Ensembl
Innerchr20:2355529..2356375hg19UCSC Ensembl
Outerchr20:2354920..2356765hg19UCSC Ensembl
Innerchr20:2303529..2304375hg18UCSC Ensembl
Outerchr20:2302920..2304765hg18UCSC Ensembl
Innerchr20:2303529..2304375hg17UCSC Ensembl
Outerchr20:2302920..2304765hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381846
hg191846
hg181846
hg171846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9781
Supporting Variants
SamplesNA18980
Known Genes
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)nssv25577
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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