A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9054



Internal ID15500280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18871771..18874305hg38UCSC Ensembl
Outerchr13:19445911..19448445hg19UCSC Ensembl
Outerchr13:18343911..18346445hg18UCSC Ensembl
Outerchr13:18343911..18346445hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg382535
hg192535
hg182535
hg172535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20526
SamplesNA10863
Known GenesANKRD20A9P
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)nsv9054
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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