A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16012



Internal ID15838890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6972406..7021787hg38UCSC Ensembl
Outerchr8:6971877..7021818hg38UCSC Ensembl
Innerchr8:6829928..6879309hg19UCSC Ensembl
Outerchr8:6829399..6879340hg19UCSC Ensembl
Innerchr8:6817338..6866719hg18UCSC Ensembl
Outerchr8:6816809..6866750hg18UCSC Ensembl
Innerchr8:6817338..6866719hg17UCSC Ensembl
Outerchr8:6816809..6866750hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3849942
hg1949942
hg1849942
hg1749942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA18942
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)nssv16012
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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