A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707021



Internal ID21733342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53176275..53176275hg38UCSC Ensembl
chr14:53642993..53642993hg19UCSC Ensembl
Cytoband14q22.1
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 Variantsnssv17196823
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)nsv5707021
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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