A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685476



Internal ID21711797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95402419..95402419hg38UCSC Ensembl
chr7:95031731..95031731hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225191, nssv17182202
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)nsv5685476
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