A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713886



Internal ID21740207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70407127..70407127hg38UCSC Ensembl
chr10:72166883..72166883hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188167
Samples
Known GenesEIF4EBP2
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)nsv5713886
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