A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696722



Internal ID21723043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118383456..118383456hg38UCSC Ensembl
chr9:121145734..121145734hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216755, nssv17187588
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)nsv5696722
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