A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv580n27



Internal ID22767309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47315065..47352800hg38UCSC Ensembl
chr22:47710815..47748550hg19UCSC Ensembl
chr22:46089479..46127214hg18UCSC Ensembl
chr22:46031334..46069069hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3837736
hg1937736
hg1837736
hg1737736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459910, nsv459911
SamplesHGDP00650, HGDP00623
Known Genes
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)dgv580n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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