A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447105



Internal ID225417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5129294..5132294hg38UCSC Ensembl
chr3:5170979..5173979hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16929045
Samples
Known GenesARL8B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447105
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