A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547895



Internal ID15211430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60002..220543hg38UCSC Ensembl
Outerchr8:10002..170543hg19UCSC Ensembl
Outerchr8:2..160543hg18UCSC Ensembl
Outerchr8:2..160543hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38160542
hg19160542
hg18160542
hg17160542
Variant TypeCNV gain
Copy Number19
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471521
Supporting Variants
SamplesNA18507
Known GenesOR4F21, RPL23AP53
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
CommentsOR4F21
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547895
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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