A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450120



Internal ID228338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24460107..24460190hg38UCSC Ensembl
chr2:24682976..24683059hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910544
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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