A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046362



Internal ID98714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69666310..69666361hg38UCSC Ensembl
chr11:69481078..69481129hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401748
Supporting Variants
Samples
Known GenesORAOV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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