A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547902



Internal ID15558118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:101861030..101978581hg38UCSC Ensembl
Outerchr15:102401233..102518784hg19UCSC Ensembl
Outerchr15:100218756..100336307hg18UCSC Ensembl
Outerchr15:100218756..100336307hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38117552
hg19117552
hg18117552
hg17117552
Variant TypeCNV gain
Copy Number13
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471523
Supporting Variants
SamplesNA18507
Known GenesDDX11L9, FAM138E, LOC100288778, MIR6859-1, MIR6859-2, OR4F4, WASH3P
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
CommentsOR4F4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547902
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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