A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450324



Internal ID228534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:754136..838398hg38UCSC Ensembl
chr4:747924..832186hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3884263
hg1984263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943929
Samples
Known GenesCPLX1, LOC100129917, PCGF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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