A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938682



Internal ID26520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119750532..119750583hg38UCSC Ensembl
chr3:119469379..119469430hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401702
Supporting Variants
Samples
Known GenesMAATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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