A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9817



Internal ID15501043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57656127..57666162hg38UCSC Ensembl
Outerchr20:56231183..56241218hg19UCSC Ensembl
Outerchr20:55664589..55674624hg18UCSC Ensembl
Outerchr20:55664589..55674624hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3810036
hg1910036
hg1810036
hg1710036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25623
SamplesNA18980
Known GenesPMEPA1
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)nsv9817
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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