A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482139



Internal ID15581346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161541761..161550623hg38UCSC Ensembl
Outerchr1:161511551..161520413hg19UCSC Ensembl
Outerchr1:159778175..159787037hg18UCSC Ensembl
Outerchr1:158324606..158333468hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388863
hg198863
hg188863
hg178863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n39
Supporting Variantsnssv558500
SamplesKB1
Known GenesFCGR3A
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
CommentsFCGR3A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482139
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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