A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482069



Internal ID8548264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45888628..45891262hg38UCSC Ensembl
Outerchr20:44517267..44519901hg19UCSC Ensembl
Outerchr20:43950674..43953308hg18UCSC Ensembl
Outerchr20:43950674..43953308hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382635
hg192635
hg182635
hg172635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558430
SamplesKB1
Known GenesCTSA, NEURL2
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
CommentsNEURL2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482069
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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