A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547955



Internal ID15558040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85640341..85662095hg38UCSC Ensembl
Outerchr8:86552570..86574324hg19UCSC Ensembl
Outerchr8:86739822..86761576hg18UCSC Ensembl
Outerchr8:86739822..86761576hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3821755
hg1921755
hg1821755
hg1721755
Variant TypeCNV gain
Copy Number177
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471542
Supporting Variants
SamplesJDW
Known GenesREXO1L1, REXO1L2P
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
CommentsREXO1L1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547955
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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