A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558570



Internal ID15581141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2841484..2854035hg38UCSC Ensembl
Outerchr19:2841482..2854033hg19UCSC Ensembl
Outerchr19:2792482..2805033hg18UCSC Ensembl
Outerchr19:2792482..2805033hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812552
hg1912552
hg1812552
hg1712552
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482209
Supporting Variants
SamplesKB1
Known GenesZNF555
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
CommentsZNF555
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558570
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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