A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481754



Internal ID259223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66130523..66133017hg38UCSC Ensembl
chr8:67042758..67045252hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382495
hg192495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013715
Samples
Known GenesTRIM55
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481754
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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