A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549379



Internal ID323046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129994270..129994296hg38UCSC Ensembl
chr11:129864165..129864191hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052688
Samples
Known GenesPRDM10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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