A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464651



Internal ID242524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51081..185761hg38UCSC Ensembl
chr5:51196..185876hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38134681
hg19134681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960775
Samples
Known GenesPLEKHG4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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