A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534475



Internal ID310274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75448229..75448229hg38UCSC Ensembl
chr14:75914932..75914932hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697914
Samples
Known GenesJDP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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