A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394767



Internal ID174194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167446548..167446566hg38UCSC Ensembl
chr3:167164336..167164354hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942411
Samples
Known GenesSERPINI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394767
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