A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16670



Internal ID15491083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12170071..12177707hg38UCSC Ensembl
Outerchr8:12169745..12178234hg38UCSC Ensembl
Innerchr8:12027580..12035216hg19UCSC Ensembl
Outerchr8:12027254..12035743hg19UCSC Ensembl
Innerchr8:12064989..12072625hg18UCSC Ensembl
Outerchr8:12064663..12073152hg18UCSC Ensembl
Innerchr8:12064989..12072625hg17UCSC Ensembl
Outerchr8:12064663..12073152hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg388490
hg198490
hg188490
hg178490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18853
Known GenesFAM90A2P
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)nssv16670
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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