A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11n31



Internal ID20133255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14965462..15037695hg38UCSC Ensembl
chr16:15059319..15131552hg19UCSC Ensembl
chr16:14966820..15039053hg18UCSC Ensembl
chr16:14966820..15039053hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3872234
hg1972234
hg1872234
hg1772234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471532, nsv471385
SamplesNA18507, JDW, YH
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
We 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
Comments
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)dgv11n31
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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