A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548010



Internal ID15557897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:18160680..18903022hg38UCSC Ensembl
Outerchr22:18643447..18890535hg19UCSC Ensembl
Outerchr22:17023447..17270535hg18UCSC Ensembl
Outerchr22:17018001..17265089hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38742343
hg19247089
hg18247089
hg17247089
Variant TypeCNV gain
Copy Number14
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471339
Supporting Variants
SamplesJDW
Known GenesGGT3P, USP18
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
CommentsUSP18
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548010
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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