A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447229



Internal ID225540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62508658..62534304hg38UCSC Ensembl
chr2:62735793..62761439hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3825647
hg1925647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914276
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447229
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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