A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694612



Internal ID21720933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45050940..45050940hg38UCSC Ensembl
chr11:45072491..45072491hg19UCSC Ensembl
Cytoband11p11.2
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 Variantsnssv17223385, nssv17189989
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)nsv5694612
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