A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548149



Internal ID15211749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:70113626..70161281hg38UCSC Ensembl
Outerchr16:70147529..70195184hg19UCSC Ensembl
Outerchr16:68705030..68752685hg18UCSC Ensembl
Outerchr16:68705030..68752685hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3847656
hg1947656
hg1847656
hg1747656
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471391
Supporting Variants
SamplesYH
Known GenesPDPR
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
CommentsPDPR
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548149
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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