A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482188



Internal ID15234661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:5071809..5087377hg38UCSC Ensembl
Outerchr16:5121810..5137378hg19UCSC Ensembl
Outerchr16:5061811..5077379hg18UCSC Ensembl
Outerchr16:5061811..5077379hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3815569
hg1915569
hg1815569
hg1715569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558549
SamplesKB1
Known GenesALG1, FAM86A
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
CommentsALG1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482188
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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