A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452969



Internal ID231110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121847618..121913618hg38UCSC Ensembl
chr2:122605194..122671194hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919864
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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