A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482216



Internal ID15234689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15451627..15464571hg38UCSC Ensembl
Outerchr19:15562438..15575382hg19UCSC Ensembl
Outerchr19:15423438..15436382hg18UCSC Ensembl
Outerchr19:15423438..15436382hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3812945
hg1912945
hg1812945
hg1712945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv558577
SamplesKB1
Known GenesRASAL3
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
CommentsRASAL3
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nsv482216
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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