A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558493



Internal ID15234386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128683655..128696396hg38UCSC Ensembl
Outerchr9:131445934..131458675hg19UCSC Ensembl
Outerchr9:130485755..130498496hg18UCSC Ensembl
Outerchr9:128525488..128538229hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3812742
hg1912742
hg1812742
hg1712742
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482132
Supporting Variants
SamplesKB1
Known GenesSET
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
CommentsSET
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558493
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