A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694610



Internal ID118276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109175795..109175795hg38UCSC Ensembl
chr13:109828143..109828143hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429068
Supporting Variants
Samples
Known GenesMYO16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007663


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