A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690451



Internal ID21716772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40452924..40452924hg38UCSC Ensembl
chr3:40494415..40494415hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208858, nssv17224046
Samples
Known GenesENTPD3-AS1
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)nsv5690451
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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