A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv339n27



Internal ID18991349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6788397..6877241hg38UCSC Ensembl
chr16:6838398..6927242hg19UCSC Ensembl
chr16:6778399..6867243hg18UCSC Ensembl
chr16:6778399..6867243hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3888845
hg1988845
hg1888845
hg1788845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457379, nsv457377
SamplesHGDP01262, HGDP01276
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)dgv339n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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