A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482138



Internal ID15581345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161541761..161550010hg38UCSC Ensembl
Outerchr1:161511551..161519800hg19UCSC Ensembl
Outerchr1:159778175..159786424hg18UCSC Ensembl
Outerchr1:158324606..158332855hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388250
hg198250
hg188250
hg178250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n39
Supporting Variantsnssv558499
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
CommentsFCGR3B
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482138
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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