A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547830



Internal ID15211734
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 Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471495
Supporting Variants
SamplesYH
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)nssv547830
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer