A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966332



Internal ID44874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32483165..32488360hg38UCSC Ensembl
chr5:32483271..32488466hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385196
hg195196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467912
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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