A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549457



Internal ID323116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30430450..30441800hg38UCSC Ensembl
chr22:30826437..30837787hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3811351
hg1911351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728426
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549457
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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