A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188



Internal ID15830370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20732760..20733194hg38UCSC Ensembl
Outerchr8:20732136..20734012hg38UCSC Ensembl
Innerchr8:20590271..20590705hg19UCSC Ensembl
Outerchr8:20589647..20591523hg19UCSC Ensembl
Innerchr8:20634551..20634985hg18UCSC Ensembl
Outerchr8:20633927..20635803hg18UCSC Ensembl
Innerchr8:20634551..20634985hg17UCSC Ensembl
Outerchr8:20633927..20635803hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381877
hg191877
hg181877
hg171877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8314
Supporting Variants
SamplesNA12155
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)nssv18188
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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