A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471401



Internal ID15211881
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548175, nssv548174, nssv548176
SamplesNA18507, YH, JDW
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)nsv471401
Frequency
Sample Size3
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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