A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24204



Internal ID15834294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:33565797..33569723hg38UCSC Ensembl
Outerchr13:33562598..33570788hg38UCSC Ensembl
Innerchr13:34139934..34143860hg19UCSC Ensembl
Outerchr13:34136735..34144925hg19UCSC Ensembl
Innerchr13:33037934..33041860hg18UCSC Ensembl
Outerchr13:33034735..33042925hg18UCSC Ensembl
Innerchr13:33037934..33041860hg17UCSC Ensembl
Outerchr13:33034735..33042925hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg388191
hg198191
hg188191
hg178191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9065
Supporting Variants
SamplesNA18517
Known GenesSTARD13
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)nssv24204
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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