A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534735



Internal ID310501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140927975..140927975hg38UCSC Ensembl
chr8:141938074..141938074hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019908
Samples
Known GenesPTK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534735
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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