A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471488



Internal ID15558654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133620616..133782046hg38UCSC Ensembl
Outerchr10:135434120..135519371hg19UCSC Ensembl
Outerchr10:135284110..135369361hg18UCSC Ensembl
Outerchr10:135323001..135408252hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38161431
hg1985252
hg1885252
hg1785252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4n31
Supporting Variantsnssv547809, nssv547810, nssv547811
SamplesNA18507, YH, JDW
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, 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
CommentsFRG2B
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471488
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer