A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680232



Internal ID21706553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50846785..50846785hg38UCSC Ensembl
chr1:51312457..51312457hg19UCSC Ensembl
Cytoband1p32.3
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 Variantsnssv17205141, nssv17228387
Samples
Known GenesFAF1
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)nsv5680232
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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