A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471544



Internal ID15212024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59921945..59955859hg38UCSC Ensembl
Outerchr17:57999306..58033220hg19UCSC Ensembl
Outerchr17:55354088..55388002hg18UCSC Ensembl
Outerchr17:55354088..55388002hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3833915
hg1933915
hg1833915
hg1733915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547964, nssv547962, nssv547963
SamplesNA18507, YH, JDW
Known GenesRNFT1, RPS6KB1
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
CommentsRNFT1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471544
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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