A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471518



Internal ID15211998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:348413..501198hg38UCSC Ensembl
Outerchr1:318139..470924hg19UCSC Ensembl
Outerchr1:308002..460787hg18UCSC Ensembl
Outerchr1:358002..510787hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38152786
hg19152786
hg18152786
hg17152786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547887, nssv547890, nssv547888
SamplesNA18507, YH, JDW
Known GenesLOC100132062, LOC100132287, LOC100133331, OR4F16, OR4F29, OR4F3
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
CommentsOR4F16
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471518
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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