A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894612



Internal ID22669686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55159116..55167180hg38UCSC Ensembl
chr3:55193144..55201208hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg388065
hg198065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426759
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894612
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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