A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9818



Internal ID15501044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57708596..57711165hg38UCSC Ensembl
Outerchr20:56283652..56286221hg19UCSC Ensembl
Outerchr20:55717058..55719627hg18UCSC Ensembl
Outerchr20:55717058..55719627hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382570
hg192570
hg182570
hg172570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24355, nssv25976
SamplesNA07029, NA12740
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)nsv9818
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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