A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17226343



Internal ID21673852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110133356..110133356hg38UCSC Ensembl
chr6:110454559..110454559hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686988
Supporting Variants
Samples
Known GenesWASF1
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)nssv17226343
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