A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471416



Internal ID15211896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49015981..49017090hg38UCSC Ensembl
Outerchr19:49519238..49520347hg19UCSC Ensembl
Outerchr19:54211050..54212159hg18UCSC Ensembl
Outerchr19:54211050..54212159hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
hg171110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548216, nssv548218, nssv548217
SamplesNA18507, JDW, YH
Known GenesLHB
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsLHB
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471416
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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