A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19362



Internal ID15832589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144137025..144146781hg38UCSC Ensembl
Outerchr8:144136569..144147164hg38UCSC Ensembl
Innerchr8:145191928..145201684hg19UCSC Ensembl
Outerchr8:145191472..145202067hg19UCSC Ensembl
Innerchr8:145263916..145273672hg18UCSC Ensembl
Outerchr8:145263460..145274055hg18UCSC Ensembl
Innerchr8:145263916..145273672hg17UCSC Ensembl
Outerchr8:145263460..145274055hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810596
hg1910596
hg1810596
hg1710596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8395
Supporting Variants
SamplesNA18502
Known GenesFAM203A
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)nssv19362
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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