A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548105



Internal ID15558190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:22999177..23039673hg38UCSC Ensembl
Outerchr15:22833395..22873891hg19UCSC Ensembl
Outerchr15:20384836..20425332hg18UCSC Ensembl
Outerchr15:20384836..20425332hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3840497
hg1940497
hg1840497
hg1740497
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471375
Supporting Variants
SamplesNA18507
Known GenesTUBGCP5
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
CommentsTUBGCP5
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548105
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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