A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471387



Internal ID15211867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30192936..30194306hg38UCSC Ensembl
Outerchr16:30204257..30205627hg19UCSC Ensembl
Outerchr16:30111758..30113128hg18UCSC Ensembl
Outerchr16:30111758..30113128hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381371
hg191371
hg181371
hg171371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548135, nssv548136, nssv548132
SamplesNA18507, JDW, YH
Known GenesBOLA2, BOLA2B, SLX1A, SLX1B
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
CommentsBOLA2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471387
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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