A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558498



Internal ID15581069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161505415..161519569hg38UCSC Ensembl
Outerchr1:161475205..161489359hg19UCSC Ensembl
Outerchr1:159741829..159755983hg18UCSC Ensembl
Outerchr1:158288260..158302414hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3814155
hg1914155
hg1814155
hg1714155
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482137
Supporting Variants
SamplesKB1
Known GenesFCGR2A
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
CommentsFCGR2A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558498
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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