A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193



Internal ID15481379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7880280..7881185hg38UCSC Ensembl
Outerchr8:7879818..7882108hg38UCSC Ensembl
Innerchr8:7737802..7738707hg19UCSC Ensembl
Outerchr8:7737340..7739630hg19UCSC Ensembl
Innerchr8:7775212..7776117hg18UCSC Ensembl
Outerchr8:7774750..7777040hg18UCSC Ensembl
Innerchr8:7775212..7776117hg17UCSC Ensembl
Outerchr8:7774750..7777040hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382291
hg192291
hg182291
hg172291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA07048
Known GenesDEFB103A, DEFB103B
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)nssv17193
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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