A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19857



Internal ID15842027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:113928777..113930648hg38UCSC Ensembl
Outerchr8:113927856..113931243hg38UCSC Ensembl
Innerchr8:114941006..114942877hg19UCSC Ensembl
Outerchr8:114940085..114943472hg19UCSC Ensembl
Innerchr8:115010182..115012053hg18UCSC Ensembl
Outerchr8:115009261..115012648hg18UCSC Ensembl
Innerchr8:115010182..115012053hg17UCSC Ensembl
Outerchr8:115009261..115012648hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383388
hg193388
hg183388
hg173388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8373
Supporting Variants
SamplesNA19132
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)nssv19857
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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