A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548156



Internal ID15211260
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 Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471382
Supporting Variants
SamplesJDW
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)nssv548156
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer