A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592852



Internal ID21541437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19084489..19084568hg38UCSC Ensembl
chr22:19072002..19072081hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17128658
SamplesHG03065
Known GenesDGCR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592852
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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