A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992633



Internal ID21901976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:182974005..183102582hg38UCSC Ensembl
chr3:182691793..182820370hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38128578
hg19128578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17547840
Samples
Known GenesDCUN1D1, MCCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992633
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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