A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482145



Internal ID15234618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46549050..46556071hg38UCSC Ensembl
Outerchr10:46993546..47000567hg19UCSC Ensembl
Outerchr10:46413552..46420573hg18UCSC Ensembl
Outerchr10:46413552..46420573hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg387022
hg197022
hg187022
hg177022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558506
SamplesKB1
Known GenesGPRIN2
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
CommentsGPRIN2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482145
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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