A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463877



Internal ID241766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79558780..79762266hg38UCSC Ensembl
chr5:78854603..79058089hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38203487
hg19203487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967007
Samples
Known GenesCMYA5, PAPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463877
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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