A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551213



Internal ID324691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31651093..31670996hg38UCSC Ensembl
chr22:32047079..32066982hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3819904
hg1919904
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728506
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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