A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471381



Internal ID15558547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2088710..2135898hg38UCSC Ensembl
Outerchr16:2138711..2185899hg19UCSC Ensembl
Outerchr16:2078712..2125900hg18UCSC Ensembl
Outerchr16:2078712..2125900hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3847189
hg1947189
hg1847189
hg1747189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548117, nssv548116, nssv548118
SamplesNA18507, YH, JDW
Known GenesMIR1225, MIR4516, MIR6511B-1, PKD1, TSC2
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
CommentsPKD1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471381
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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