A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558417



Internal ID15234503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219538947..219543765hg38UCSC Ensembl
Outerchr2:220403669..220408487hg19UCSC Ensembl
Outerchr2:220111913..220116731hg18UCSC Ensembl
Outerchr2:220229174..220233992hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384819
hg194819
hg184819
hg174819
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482056
Supporting Variants
SamplesKB1
Known GenesCHPF
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
CommentsCHPF
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558417
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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