A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547964



Internal ID15211642
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 Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471544
Supporting Variants
SamplesYH
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)nssv547964
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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