A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891935



Internal ID168812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172071666..172071717hg38UCSC Ensembl
chr1:172040806..172040857hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396262
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891935
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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