A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710829



Internal ID21737150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40346374..40346374hg38UCSC Ensembl
chr17:38502626..38502626hg19UCSC Ensembl
Cytoband17q21.2
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 Variantsnssv17198349
Samples
Known GenesRARA
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)nsv5710829
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