A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471489



Internal ID15211969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70108418..70900248hg38UCSC Ensembl
Outerchr5:69404245..70196075hg19UCSC Ensembl
Outerchr5:69440001..70231831hg18UCSC Ensembl
Outerchr5:69440001..70231831hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38791831
hg19791831
hg18791831
hg17791831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547814, nssv547815, nssv547813
SamplesNA18507, YH, JDW
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SMA4, SMA5
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
CommentsGTF2H2B
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471489
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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