A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558563



Internal ID15234456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46557254..46579693hg38UCSC Ensembl
Outerchr17:44634620..44657059hg19UCSC Ensembl
Outerchr17:41989936..42012375hg18UCSC Ensembl
Outerchr17:41989936..42012375hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3822440
hg1922440
hg1822440
hg1722440
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482202
Supporting Variants
SamplesKB1
Known GenesARL17A, ARL17B
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsARL17
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558563
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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