A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507511



Internal ID284228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49682506..49684845hg38UCSC Ensembl
chr14:50149224..50151563hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696661
Samples
Known GenesPOLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507511
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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