A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18031



Internal ID15497722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7550667..7551205hg38UCSC Ensembl
Outerchr8:7550313..7551233hg38UCSC Ensembl
Innerchr8:7408189..7408727hg19UCSC Ensembl
Outerchr8:7407835..7408755hg19UCSC Ensembl
Innerchr8:7395599..7396137hg18UCSC Ensembl
Outerchr8:7395245..7396165hg18UCSC Ensembl
Innerchr8:7395599..7396137hg17UCSC Ensembl
Outerchr8:7395245..7396165hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38921
hg19921
hg18921
hg17921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
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)nssv18031
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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