A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682224



Internal ID21708545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11239516..11239516hg38UCSC Ensembl
chr1:11299573..11299573hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205635, nssv17221585
Samples
Known GenesMTOR
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)nsv5682224
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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