A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705390



Internal ID21731711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24411296..24411296hg38UCSC Ensembl
chr10:24700225..24700225hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188081, nssv17216230
Samples
Known GenesKIAA1217
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)nsv5705390
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