A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991508



Internal ID21900851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131557318..131562272hg38UCSC Ensembl
chr3:131276162..131281116hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384955
hg194955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542528
Samples
Known GenesCPNE4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991508
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