A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928386



Internal ID19628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224485469..224485524hg38UCSC Ensembl
chr2:225350186..225350241hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434530
Supporting Variants
Samples
Known GenesCUL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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