A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471521



Internal ID15212001
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547895, nssv547896, nssv547894
SamplesNA18507, YH, JDW
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)nsv471521
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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