A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674864



Internal ID21701185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79115421..79115421hg38UCSC Ensembl
chr5:78411244..78411244hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176492, nssv17213093
Samples
Known GenesBHMT
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)nsv5674864
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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