A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692806



Internal ID21719127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100506615..100506615hg38UCSC Ensembl
chr3:100225459..100225459hg19UCSC Ensembl
Cytoband3q12.2
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 Variantsnssv17213643
Samples
Known GenesTMEM45A
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5692806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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