A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv356n27



Internal ID22767085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81046761..81061486hg38UCSC Ensembl
chr16:81080366..81095091hg19UCSC Ensembl
chr16:79637867..79652592hg18UCSC Ensembl
chr16:79637867..79652592hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3814726
hg1914726
hg1814726
hg1714726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457566, nsv457568, nsv457565, nsv457567, nsv457564, nsv457569
SamplesHGDP00543, HGDP01232, HGDP00820, HGDP00790, HGDP01386, HGDP01317
Known GenesATMIN, C16orf46
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)dgv356n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer