A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25647



Internal ID15841323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47822143..47826501hg38UCSC Ensembl
Outerchr20:47821545..47827744hg38UCSC Ensembl
Innerchr20:46450887..46455245hg19UCSC Ensembl
Outerchr20:46450289..46456488hg19UCSC Ensembl
Innerchr20:45884294..45888652hg18UCSC Ensembl
Outerchr20:45883696..45889895hg18UCSC Ensembl
Innerchr20:45884294..45888652hg17UCSC Ensembl
Outerchr20:45883696..45889895hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg386200
hg196200
hg186200
hg176200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9814
Supporting Variants
SamplesNA19007
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)nssv25647
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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