A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv335n27



Internal ID22767064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1817039..1897015hg38UCSC Ensembl
chr16:1867040..1947016hg19UCSC Ensembl
chr16:1807041..1887017hg18UCSC Ensembl
chr16:1807041..1887017hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3879977
hg1979977
hg1879977
hg1779977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457339, nsv457338
SamplesHGDP00105, HGDP00102
Known GenesFAHD1, HAGH, LINC00254, MEIOB
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)dgv335n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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