A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18612



Internal ID15485955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4265787..4267101hg38UCSC Ensembl
Outerchr8:4264762..4268092hg38UCSC Ensembl
Innerchr8:4123309..4124623hg19UCSC Ensembl
Outerchr8:4122284..4125614hg19UCSC Ensembl
Innerchr8:4110717..4112031hg18UCSC Ensembl
Outerchr8:4109692..4113022hg18UCSC Ensembl
Innerchr8:4110717..4112031hg17UCSC Ensembl
Outerchr8:4109692..4113022hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383331
hg193331
hg183331
hg173331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18502
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)nssv18612
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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