A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv546n27



Internal ID20132804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21974019..22225408hg38UCSC Ensembl
chr22:22328391..22579801hg19UCSC Ensembl
chr22:20658391..20909801hg18UCSC Ensembl
chr22:20652945..20904355hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38251390
hg19251411
hg18251411
hg17251411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459428, nsv459410
Samples1798860049_A, HGDP00963
Known GenesTOP3B
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)dgv546n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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