A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558424



Internal ID331488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142626793..142626844hg38UCSC Ensembl
chr3:142345635..142345686hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938887
Samples
Known GenesPLS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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