A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7957n54



Internal ID20141381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17659788..17662058hg38UCSC Ensembl
chr22:18142554..18144824hg19UCSC Ensembl
chr22:16522554..16524824hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382271
hg192271
hg182271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588116, nsv588112, nsv588114, nsv588118
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7957n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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