A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444680



Internal ID223051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129638870..129640344hg38UCSC Ensembl
chr3:129357713..129359187hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381475
hg191475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937673
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444680
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