A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994142



Internal ID21903485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53410833..53419269hg38UCSC Ensembl
chr3:53444860..53453296hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg388437
hg198437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542767
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994142
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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