A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548357



Internal ID15558272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121038..179075hg38UCSC Ensembl
Outerchr9:121038..179075hg19UCSC Ensembl
Outerchr9:111038..169075hg18UCSC Ensembl
Outerchr9:111038..169075hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3858038
hg1958038
hg1858038
hg1758038
Variant TypeCNV gain
Copy Number11
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471465
Supporting Variants
SamplesNA18507
Known GenesCBWD1
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
CommentsCBWD1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548357
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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