A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482144



Internal ID15581351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46579016..46591089hg38UCSC Ensembl
Outerchr10:46958528..46970601hg19UCSC Ensembl
Outerchr10:46378534..46390607hg18UCSC Ensembl
Outerchr10:46378534..46390607hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3812074
hg1912074
hg1812074
hg1712074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558505
SamplesKB1
Known GenesSYT15
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
CommentsSYT15
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482144
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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