A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482179



Internal ID15581386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6424788..6460943hg38UCSC Ensembl
Outerchr1:6484848..6521003hg19UCSC Ensembl
Outerchr1:6407435..6443590hg18UCSC Ensembl
Outerchr1:6419114..6455269hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3836156
hg1936156
hg1836156
hg1736156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558540
SamplesKB1
Known GenesESPN, MIR4252
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
CommentsESPN
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482179
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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