A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548071



Internal ID15557958
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471361
Supporting Variants
SamplesJDW
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)nssv548071
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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