A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023322



Internal ID83264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70749612..70749723hg38UCSC Ensembl
chr9:73364528..73364639hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477480
Supporting Variants
Samples
Known GenesTRPM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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