A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548116



Internal ID15557984
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 Number7
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471381
Supporting Variants
SamplesJDW
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)nssv548116
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer