A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17798



Internal ID15830482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6970928..7023340hg38UCSC Ensembl
Outerchr8:6970267..7023782hg38UCSC Ensembl
Innerchr8:6828450..6880862hg19UCSC Ensembl
Outerchr8:6827789..6881304hg19UCSC Ensembl
Innerchr8:6815860..6868272hg18UCSC Ensembl
Outerchr8:6815199..6868714hg18UCSC Ensembl
Innerchr8:6815860..6868272hg17UCSC Ensembl
Outerchr8:6815199..6868714hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3853516
hg1953516
hg1853516
hg1753516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA12155
Known GenesDEFA1, DEFA1B, DEFA3, DEFT1P, DEFT1P2
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)nssv17798
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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