A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468718



Internal ID246512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109353747..109354415hg38UCSC Ensembl
chr5:108689448..108690116hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971881
Samples
Known GenesPJA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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