A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547809



Internal ID15557885
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 Number28
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471488
Supporting Variants
SamplesJDW
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)nssv547809
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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