A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558447



Internal ID15234533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:987659..993436hg38UCSC Ensembl
Outerchr4:981447..987224hg19UCSC Ensembl
Outerchr4:971447..977224hg18UCSC Ensembl
Outerchr4:971277..977054hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385778
hg195778
hg185778
hg175778
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482086
Supporting Variants
SamplesKB1
Known GenesIDUA, SLC26A1
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
CommentsSLC26A1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558447
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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