A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7976n54



Internal ID20141400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18903102..18988074hg38UCSC Ensembl
chr22:18890615..18975587hg19UCSC Ensembl
chr22:17270615..17355587hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3884973
hg1984973
hg1884973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588190, nsv588197
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7976n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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