A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558561



Internal ID15581132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28607964..28614193hg38UCSC Ensembl
Outerchr17:26934982..26941211hg19UCSC Ensembl
Outerchr17:23959109..23965338hg18UCSC Ensembl
Outerchr17:23959109..23965338hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386230
hg196230
hg186230
hg176230
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482200
Supporting Variants
SamplesKB1
Known GenesSGK494, SPAG5-AS1
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
CommentsFLJ25006
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558561
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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