A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471491



Internal ID15558657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32482246..32522507hg38UCSC Ensembl
Outerchr6:32450023..32490284hg19UCSC Ensembl
Outerchr6:32558001..32598262hg18UCSC Ensembl
Outerchr6:32558001..32598262hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3840262
hg1940262
hg1840262
hg1740262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547819
SamplesNA18507
Known GenesHLA-DRB5
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsHLA
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471491
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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