A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548183



Internal ID15211234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67991101..67993649hg38UCSC Ensembl
Outerchr17:65987217..65989765hg19UCSC Ensembl
Outerchr17:63417679..63420227hg18UCSC Ensembl
Outerchr17:63417679..63420227hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382549
hg192549
hg182549
hg172549
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471405
Supporting Variants
SamplesJDW
Known GenesC17orf58
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
CommentsC17orf58
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548183
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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