A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449651



Internal ID227882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119659503..119660919hg38UCSC Ensembl
chr2:120417079..120418495hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381417
hg191417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917607
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449651
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