A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558547



Internal ID15234440
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 Variantsnsv482186
Supporting Variants
SamplesKB1
Known GenesMIR1225, MIR4516, MIR6511B-1, PKD1, TSC2
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsPKD1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558547
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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