A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471382



Internal ID15211862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55787588..55830150hg38UCSC Ensembl
Outerchr16:55821500..55864062hg19UCSC Ensembl
Outerchr16:54379001..54421563hg18UCSC Ensembl
Outerchr16:54379001..54421563hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3842563
hg1942563
hg1842563
hg1742563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548167, nssv548156, nssv548178
SamplesNA18507, YH, JDW
Known GenesCES1
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
CommentsCES1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471382
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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