A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544742



Internal ID318855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36389991..36394240hg38UCSC Ensembl
chr22:36786036..36790285hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384250
hg194250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728770
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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