A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680653



Internal ID21706974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116152743..116152743hg38UCSC Ensembl
chr3:115871590..115871590hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226500, nssv17210706
Samples
Known GenesLSAMP
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)nsv5680653
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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