A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677976



Internal ID21704297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:170464724..170464724hg38UCSC Ensembl
chr4:171385875..171385875hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212752, nssv17174969
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)nsv5677976
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