A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976227



Internal ID51548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143911817..143911868hg38UCSC Ensembl
chr5:143291382..143291433hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402290
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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