A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955343



Internal ID37540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128450546..128450546hg38UCSC Ensembl
chr4:129371701..129371701hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546718
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955343
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