A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398717



Internal ID178112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131482744..131482744hg38UCSC Ensembl
chr3:131201588..131201588hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939857
Samples
Known GenesMRPL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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