A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20400



Internal ID15844298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6972406..6980401hg38UCSC Ensembl
Outerchr8:6971877..6981054hg38UCSC Ensembl
Innerchr8:6829928..6837923hg19UCSC Ensembl
Outerchr8:6829399..6838576hg19UCSC Ensembl
Innerchr8:6817338..6825333hg18UCSC Ensembl
Outerchr8:6816809..6825986hg18UCSC Ensembl
Innerchr8:6817338..6825333hg17UCSC Ensembl
Outerchr8:6816809..6825986hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg389178
hg199178
hg189178
hg179178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA19221
Known GenesDEFA1, DEFA1B
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)nssv20400
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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