A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv346n27



Internal ID22767075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20467402..20518912hg38UCSC Ensembl
chr16:20478724..20530234hg19UCSC Ensembl
chr16:20386225..20437735hg18UCSC Ensembl
chr16:20386225..20437735hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3851511
hg1951511
hg1851511
hg1751511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457442, nsv457443
SamplesHGDP00462, HGDP00932
Known GenesACSM2A
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)dgv346n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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