A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023317



Internal ID83260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70666960..70667011hg38UCSC Ensembl
chr9:73281876..73281927hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402530
Supporting Variants
Samples
Known GenesTRPM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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