A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548402



Internal ID15558059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:389001..449952hg38UCSC Ensembl
Outerchr8:339001..399952hg19UCSC Ensembl
Outerchr8:329001..389952hg18UCSC Ensembl
Outerchr8:329001..389952hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3860952
hg1960952
hg1860952
hg1760952
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471483
Supporting Variants
SamplesJDW
Known GenesFBXO25
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsFBXO25
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548402
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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