A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681010



Internal ID21707331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103070607..103070607hg38UCSC Ensembl
chr7:102711054..102711054hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182636, nssv17228443
Samples
Known GenesFBXL13
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)nsv5681010
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