A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549059



Internal ID322758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20355564..20433564hg38UCSC Ensembl
chr22:20709854..20787851hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3878001
hg1977998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727707
Samples
Known GenesSCARF2, ZNF74
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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