A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015188



Internal ID77779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109107750..109107801hg38UCSC Ensembl
chr8:110119979..110120030hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407407
Supporting Variants
Samples
Known GenesTRHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015188
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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