A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471520



Internal ID15212000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:60002..259400hg38UCSC Ensembl
Outerchr19:60002..259400hg19UCSC Ensembl
Outerchr19:11002..210400hg18UCSC Ensembl
Outerchr19:11002..210400hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38199399
hg19199399
hg18199399
hg17199399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547891, nssv547893, nssv547892
SamplesNA18507, YH, JDW
Known GenesFAM138A, FAM138F, LINC01002, OR4F17, WASH5P
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
CommentsOR4F17
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471520
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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