A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471464



Internal ID15558630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:14511..29739hg38UCSC Ensembl
Outerchr9:14511..29739hg19UCSC Ensembl
Outerchr9:4511..19739hg18UCSC Ensembl
Outerchr9:4511..19739hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3815229
hg1915229
hg1815229
hg1715229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548353, nssv548351, nssv548352
SamplesNA18507, YH, JDW
Known GenesDDX11L5, WASH1
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.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsWASH1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471464
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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