A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558533



Internal ID15234426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73537224..73543794hg38UCSC Ensembl
Outerchr14:74003928..74010498hg19UCSC Ensembl
Outerchr14:73073681..73080251hg18UCSC Ensembl
Outerchr14:73073681..73080251hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386571
hg196571
hg186571
hg176571
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482172
Supporting Variants
SamplesKB1
Known GenesACOT1, HEATR4
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
CommentsACOT1
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558533
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer