A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414115



Internal ID193400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104829646..104829697hg38UCSC Ensembl
chr12:105223424..105223475hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690545
Samples
Known GenesSLC41A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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