A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676948



Internal ID21703269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165248727..165248727hg38UCSC Ensembl
chr6:165662216..165662216hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216147, nssv17180799
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)nsv5676948
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