A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680641



Internal ID21706962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:114724924..114724924hg38UCSC Ensembl
chr4:115646080..115646080hg19UCSC Ensembl
Cytoband4q26
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 Variantsnssv17212660, nssv17173534
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)nsv5680641
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer