A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553141



Internal ID326418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46039066..46039125hg38UCSC Ensembl
chr22:46434946..46435005hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729534
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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