A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9814



Internal ID15847726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47821545..47827744hg38UCSC Ensembl
Outerchr20:46450289..46456488hg19UCSC Ensembl
Outerchr20:45883696..45889895hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv25647, nssv22669, nssv27684
SamplesNA19007, NA18572, NA18517
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)nsv9814
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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