A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463339



Internal ID241246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95951411..95967451hg38UCSC Ensembl
chr5:95287115..95303155hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816041
hg1916041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970648
Samples
Known GenesELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463339
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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