A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18867



Internal ID15495014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4314474..4318068hg38UCSC Ensembl
Outerchr8:4313594..4318650hg38UCSC Ensembl
Innerchr8:4171996..4175590hg19UCSC Ensembl
Outerchr8:4171116..4176172hg19UCSC Ensembl
Innerchr8:4159404..4162998hg18UCSC Ensembl
Outerchr8:4158524..4163580hg18UCSC Ensembl
Innerchr8:4159404..4162998hg17UCSC Ensembl
Outerchr8:4158524..4163580hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg385057
hg195057
hg185057
hg175057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19132
Known GenesCSMD1
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)nssv18867
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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