A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696137



Internal ID21722458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124242811..124242811hg38UCSC Ensembl
chr9:127005090..127005090hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220997, nssv17187833
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)nsv5696137
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