A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548174



Internal ID15211244
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 Variantsnsv471401
Supporting Variants
SamplesJDW
Known GenesARL17A, ARL17B
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
CommentsARL17
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548174
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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