A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548350



Internal ID15558329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12425617..12436343hg38UCSC Ensembl
Outerchr8:12283126..12293852hg19UCSC Ensembl
Outerchr8:12327497..12338223hg18UCSC Ensembl
Outerchr8:12327497..12338223hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3810727
hg1910727
hg1810727
hg1710727
Variant TypeCNV gain
Copy Number21
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471463
Supporting Variants
SamplesYH
Known GenesFAM86B2
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsFAM86B2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548350
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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