A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558510



Internal ID15234403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102065390..102068035hg38UCSC Ensembl
Outerchr10:103825147..103827792hg19UCSC Ensembl
Outerchr10:103815137..103817782hg18UCSC Ensembl
Outerchr10:103815137..103817782hg17UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg382646
hg192646
hg182646
hg172646
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482149
Supporting Variants
SamplesKB1
Known GenesHPS6
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
CommentsHPS6
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558510
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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