A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444258



Internal ID222636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223968866..223968977hg38UCSC Ensembl
chr2:224833583..224833694hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923973
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer