A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544495



Internal ID318634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140349295..140349322hg38UCSC Ensembl
chr8:141359394..141359421hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735874
Samples
Known GenesTRAPPC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544495
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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