A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546992



Internal ID320884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41453580..41453746hg38UCSC Ensembl
chr22:41849584..41849750hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729145
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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