A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680512



Internal ID21706833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119040299..119040299hg38UCSC Ensembl
chr5:118375994..118375994hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227144
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)nsv5680512
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