A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547921



Internal ID15558006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5762195..5788075hg38UCSC Ensembl
Outerchr11:5783425..5809305hg19UCSC Ensembl
Outerchr11:5740001..5765881hg18UCSC Ensembl
Outerchr11:5740001..5765881hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3825881
hg1925881
hg1825881
hg1725881
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471529
Supporting Variants
SamplesJDW
Known GenesOR52N1, OR52N5
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
CommentsOR52N1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547921
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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