A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv338n27



Internal ID20132596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6587112..6639091hg38UCSC Ensembl
chr16:6637113..6689092hg19UCSC Ensembl
chr16:6577114..6629093hg18UCSC Ensembl
chr16:6577114..6629093hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3851980
hg1951980
hg1851980
hg1751980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457369, nsv457368, nsv457370, nsv457371
SamplesHGDP00552, HGDP00548, HGDP00787, HGDP00550
Known GenesRBFOX1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv338n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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