A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548138



Internal ID15211517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30193896..30197559hg38UCSC Ensembl
Outerchr16:30205217..30208880hg19UCSC Ensembl
Outerchr16:30112718..30116381hg18UCSC Ensembl
Outerchr16:30112718..30116381hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383664
hg193664
hg183664
hg173664
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471388
Supporting Variants
SamplesNA18507
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
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
CommentsGIYD1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548138
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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