A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21720



Internal ID15843884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:145052426..145053061hg38UCSC Ensembl
Outerchr8:145052007..145053279hg38UCSC Ensembl
Innerchr8:146277812..146278447hg19UCSC Ensembl
Outerchr8:146277393..146278665hg19UCSC Ensembl
Innerchr8:146248616..146249251hg18UCSC Ensembl
Outerchr8:146248197..146249469hg18UCSC Ensembl
Innerchr8:146248616..146249251hg17UCSC Ensembl
Outerchr8:146248197..146249469hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381273
hg191273
hg181273
hg171273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8399
Supporting Variants
SamplesNA19221
Known GenesC8orf33
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)nssv21720
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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