A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471487



Internal ID15558653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:190004060..190104413hg38UCSC Ensembl
Outerchr4:190925215..191025568hg19UCSC Ensembl
Outerchr4:191162209..191259549hg18UCSC Ensembl
Outerchr4:191300364..191397704hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38100354
hg19100354
hg1897341
hg1797341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547808, nssv547806, nssv547807
SamplesNA18507, YH, JDW
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG2, LOC100288255, LOC100653046
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
CommentsFRG2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471487
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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