A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482140



Internal ID15581347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161663152..161674073hg38UCSC Ensembl
Outerchr1:161632942..161643863hg19UCSC Ensembl
Outerchr1:159899566..159910487hg18UCSC Ensembl
Outerchr1:158364613..158375530hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3810922
hg1910922
hg1810922
hg1710918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558501
SamplesKB1
Known GenesFCGR2B
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
CommentsFCGR2C
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482140
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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