A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv579n27



Internal ID20132837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29371936..29411866hg38UCSC Ensembl
chr22:29767925..29807855hg19UCSC Ensembl
chr22:28097925..28137855hg18UCSC Ensembl
chr22:28092479..28132409hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3839931
hg1939931
hg1839931
hg1739931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459869, nsv459868
SamplesHGDP01276, HGDP01269
Known GenesAP1B1
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)dgv579n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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