A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965860



Internal ID44565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68291464..68291515hg38UCSC Ensembl
chr5:67587292..67587343hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406722
Supporting Variants
Samples
Known GenesPIK3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965860
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004683


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