A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482130



Internal ID15581337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:60914407..60920650hg38UCSC Ensembl
Outerchr9:39884975..39891207hg19UCSC Ensembl
Outerchr9:39874975..39881207hg18UCSC Ensembl
Outerchr9:39657015..39663247hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg386244
hg196233
hg186233
hg176233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558491
SamplesKB1
Known GenesSPATA31A1, SPATA31A2
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
CommentsFAM75A1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482130
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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