A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549779



Internal ID323400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42599268..42599306hg38UCSC Ensembl
chr13:43173404..43173442hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687228
Samples
Known GenesTNFSF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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