A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482081



Internal ID15581288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109668022..109683996hg38UCSC Ensembl
Outerchr1:110210644..110226618hg19UCSC Ensembl
Outerchr1:110012167..110028141hg18UCSC Ensembl
Outerchr1:109922686..109938660hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3815975
hg1915975
hg1815975
hg1715975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558442
SamplesKB1
Known GenesGSTM2
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
CommentsGSTM2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482081
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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