A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv543n27



Internal ID20132801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18890274..19046019hg38UCSC Ensembl
chr22:18877787..19033532hg19UCSC Ensembl
chr22:17257787..17413532hg18UCSC Ensembl
chr22:17252341..17408086hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38155746
hg19155746
hg18155746
hg17155746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459378, nsv459366, nsv459388, nsv459360, nsv459368, nsv459364, nsv459393, nsv459379, nsv459362, nsv459387, nsv459367, nsv459383, nsv459365, nsv459359, nsv459356, nsv459372, nsv459384, nsv459390, nsv459369, nsv459389, nsv459381, nsv459376, nsv459375, nsv459357, nsv459361, nsv459373, nsv459371, nsv459382, nsv459391, nsv459377, nsv459370, nsv459380
Samples1780862021_A, HGDP01379, HGDP00025, 1780854255_A, 1780862002_A, HGDP00136, NINDS_56, HGDP01310, HGDP00737, NINDS_54, HGDP00021, NINDS_58, HGDP01050, HGDP00351, HGDP01399, 1780862274_A, HGDP00524, 1780854430_A, 1780862224_A, HGDP00557, HGDP00582, 1780854327_A, 1798860251_A, 1780846004_A, 1780862195_A, HGDP01268, NINDS_57, NINDS_197, NINDS_98, 1798860010_A, 1780854196_A, HGDP00228
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
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)dgv543n27
Frequency
Sample Size1557
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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