A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544300



Internal ID318456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39163287..39165693hg38UCSC Ensembl
chr22:39559292..39561698hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728991
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544300
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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