A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207234



Internal ID21654743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33847407..33847407hg38UCSC Ensembl
chr3:33888899..33888899hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678865
Supporting Variants
Samples
Known GenesPDCD6IP
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)nssv17207234
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