A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548136



Internal ID15211736
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 Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471387
Supporting Variants
SamplesYH
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)nssv548136
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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