A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471361



Internal ID15558527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5787856..5788816hg38UCSC Ensembl
Outerchr11:5809086..5810046hg19UCSC Ensembl
Outerchr11:5765662..5766622hg18UCSC Ensembl
Outerchr11:5765662..5766622hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38961
hg19961
hg18961
hg17961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548072, nssv548071
SamplesNA18507, JDW
Known GenesOR52N1
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
CommentsOR52N1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471361
Frequency
Sample Size3
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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