A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482113



Internal ID15234586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102637025..102671735hg38UCSC Ensembl
Outerchr7:102277472..102312182hg19UCSC Ensembl
Outerchr7:102064710..102099418hg18UCSC Ensembl
Outerchr7:101871425..101906133hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3834711
hg1934711
hg1834709
hg1734709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558474
SamplesKB1
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B, UPK3BL
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
CommentsPOLR2J2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482113
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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