A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399077



Internal ID178470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132504888..132504932hg38UCSC Ensembl
chr3:132223732..132223776hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939957
Samples
Known GenesDNAJC13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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