A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9810



Internal ID15847722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46305957..46333087hg38UCSC Ensembl
Outerchr20:44934596..44961725hg19UCSC Ensembl
Outerchr20:44368003..44395132hg18UCSC Ensembl
Outerchr20:44368003..44395132hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3827131
hg1927130
hg1827130
hg1727130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28647
SamplesNA19221
Known GenesCDH22
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)nsv9810
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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