A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv582n27



Internal ID22767311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50024802..50157413hg38UCSC Ensembl
chr22:50463231..50595842hg19UCSC Ensembl
chr22:48805358..48937969hg18UCSC Ensembl
chr22:48765688..48898299hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38132612
hg19132612
hg18132612
hg17132612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459926, nsv459927, nsv459925
SamplesHGDP00590, HGDP00581, HGDP00573
Known GenesMLC1, MOV10L1
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)dgv582n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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