A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548316



Internal ID322083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45523434..45524858hg38UCSC Ensembl
chr22:45919314..45920738hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729496
Samples
Known GenesFBLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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