A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703336



Internal ID21729657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:28590941..28590941hg38UCSC Ensembl
chr11:28612488..28612488hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189837, nssv17221435
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)nsv5703336
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