A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19784



Internal ID15487251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5355972..5360233hg38UCSC Ensembl
Outerchr8:5355237..5360922hg38UCSC Ensembl
Innerchr8:5213494..5217755hg19UCSC Ensembl
Outerchr8:5212759..5218444hg19UCSC Ensembl
Innerchr8:5200902..5205163hg18UCSC Ensembl
Outerchr8:5200167..5205852hg18UCSC Ensembl
Innerchr8:5200902..5205163hg17UCSC Ensembl
Outerchr8:5200167..5205852hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg385686
hg195686
hg185686
hg175686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
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)nssv19784
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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