A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24364



Internal ID15834039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105129925..105130933hg38UCSC Ensembl
Outerchr13:105128969..105131392hg38UCSC Ensembl
Innerchr13:105782276..105783284hg19UCSC Ensembl
Outerchr13:105781320..105783743hg19UCSC Ensembl
Innerchr13:104580277..104581285hg18UCSC Ensembl
Outerchr13:104579321..104581744hg18UCSC Ensembl
Innerchr13:104580277..104581285hg17UCSC Ensembl
Outerchr13:104579321..104581744hg17UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg382424
hg192424
hg182424
hg172424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9104
Supporting Variants
SamplesNA18517
Known Genes
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)nssv24364
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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