A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421383



Internal ID200459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30819544..30819595hg38UCSC Ensembl
chr22:31215531..31215582hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728447
Samples
Known GenesOSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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