A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558452



Internal ID15581168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150894402..150904829hg38UCSC Ensembl
Outerchr5:150273964..150284391hg19UCSC Ensembl
Outerchr5:150254157..150264584hg18UCSC Ensembl
Outerchr5:150254157..150264584hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3810428
hg1910428
hg1810428
hg1710428
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482091
Supporting Variants
SamplesKB1
Known GenesZNF300
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
CommentsZNF300
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558452
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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