A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482057



Internal ID15234717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232378638..232382887hg38UCSC Ensembl
Outerchr2:233243348..233247597hg19UCSC Ensembl
Outerchr2:232951592..232955841hg18UCSC Ensembl
Outerchr2:233068853..233073102hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384250
hg194250
hg184250
hg174250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558418
SamplesKB1
Known GenesALPP
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
CommentsALPP
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482057
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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