A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938974



Internal ID26700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146074387..146074438hg38UCSC Ensembl
chr3:145792174..145792225hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404695
Supporting Variants
Samples
Known GenesPLOD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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