A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682455



Internal ID21708776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101338504..101338504hg38UCSC Ensembl
chr3:101057348..101057348hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207384, nssv17218721
Samples
Known GenesSENP7
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)nsv5682455
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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