A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558554



Internal ID15234447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31483118..31490770hg38UCSC Ensembl
Outerchr16:31494439..31502091hg19UCSC Ensembl
Outerchr16:31401940..31409592hg18UCSC Ensembl
Outerchr16:31401940..31409592hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387653
hg197653
hg187653
hg177653
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482193
Supporting Variants
SamplesKB1
Known GenesC16orf58, SLC5A2
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
CommentsSLC5A2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558554
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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