A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464580



Internal ID242457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129859190..129885695hg38UCSC Ensembl
chr4:130780345..130806850hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3826506
hg1926506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955772
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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