A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482087



Internal ID8548282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9781634..9784009hg38UCSC Ensembl
Outerchr4:9783258..9785633hg19UCSC Ensembl
Outerchr4:9392356..9394731hg18UCSC Ensembl
Outerchr4:9459527..9461902hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382376
hg192376
hg182376
hg172376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558448
SamplesKB1
Known GenesDRD5
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
CommentsDRD5
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482087
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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