A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482203



Internal ID15234676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47531078..47623276hg38UCSC Ensembl
Outerchr17:45608444..45700642hg19UCSC Ensembl
Outerchr17:42963443..43055641hg18UCSC Ensembl
Outerchr17:42963443..43055641hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3892199
hg1992199
hg1892199
hg1792199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558564
SamplesKB1
Known GenesNPEPPS
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsNPEPPS
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482203
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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