A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547886



Internal ID15211720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248582659..248631802hg38UCSC Ensembl
Outerchr1:248745960..248795103hg19UCSC Ensembl
Outerchr1:246812583..246861726hg18UCSC Ensembl
Outerchr1:245072001..245121144hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3849144
hg1949144
hg1849144
hg1749144
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471517
Supporting Variants
SamplesYH
Known GenesOR2T10, OR2T11
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsOR2T10
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547886
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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