A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9n31



Internal ID20133253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22787819..22878508hg38UCSC Ensembl
chr15:22994560..23085249hg19UCSC Ensembl
chr15:20546001..20636690hg18UCSC Ensembl
chr15:20546001..20636690hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3890690
hg1990690
hg1890690
hg1790690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471512, nsv471511
SamplesNA18507
Known GenesCYFIP1, NIPA1, NIPA2
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
Comments
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)dgv9n31
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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