A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994192



Internal ID21903535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79125898..79125973hg38UCSC Ensembl
chr3:79175048..79175123hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17538837
Samples
Known GenesROBO1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994192
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