A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714216



Internal ID21740537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40840626..40840626hg38UCSC Ensembl
chr15:41132824..41132824hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197474
Samples
Known Genes
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)nsv5714216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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