A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482169



Internal ID15581376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23988818..24006410hg38UCSC Ensembl
Outerchr14:24458027..24475619hg19UCSC Ensembl
Outerchr14:23527867..23545459hg18UCSC Ensembl
Outerchr14:23527867..23545459hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3817593
hg1917593
hg1817593
hg1717593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558530
SamplesKB1
Known GenesDHRS4L2
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
CommentsDHRS4L2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482169
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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