A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482090



Internal ID15234750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139387569..139389916hg38UCSC Ensembl
Outerchr5:138723258..138725605hg19UCSC Ensembl
Outerchr5:138751157..138753504hg18UCSC Ensembl
Outerchr5:138751157..138753504hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382348
hg192348
hg182348
hg172348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558451
SamplesKB1
Known GenesMZB1
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
CommentsMGC29506
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482090
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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