A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711598



Internal ID21737919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14491797..14491797hg38UCSC Ensembl
chr21:15864118..15864118hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214830, nssv17204282
Samples
Known GenesSAMSN1
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)nsv5711598
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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