A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471495



Internal ID15211975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20318096..20560912hg38UCSC Ensembl
Outerchr17:20221409..20464225hg19UCSC Ensembl
Outerchr17:20162001..20404817hg18UCSC Ensembl
Outerchr17:20162001..20404817hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38242817
hg19242817
hg18242817
hg17242817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547829, nssv547830, nssv547828
SamplesNA18507, YH, JDW
Known GenesCCDC144CP, KRT16P3, LGALS9B
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
CommentsLGALS9B
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471495
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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