A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450558



Internal ID228761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188115129..188131841hg38UCSC Ensembl
chr3:187832917..187849629hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3816713
hg1916713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944038
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450558
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