A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943169



Internal ID29425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171854649..171854700hg38UCSC Ensembl
chr3:171572439..171572490hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403745
Supporting Variants
Samples
Known GenesTMEM212
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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