A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548073



Internal ID15558426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5884293..5885229hg38UCSC Ensembl
Outerchr11:5905523..5906459hg19UCSC Ensembl
Outerchr11:5862099..5863035hg18UCSC Ensembl
Outerchr11:5862099..5863035hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38937
hg19937
hg18937
hg17937
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471362
Supporting Variants
SamplesYH
Known GenesOR52E4
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
CommentsOR52E4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548073
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer