A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592816



Internal ID21541401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40957334..40957457hg38UCSC Ensembl
chr22:41353338..41353461hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17126680
SamplesHG03371
Known GenesRBX1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592816
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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