A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206171



Internal ID21653680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86358366..86358366hg38UCSC Ensembl
chr1:86824049..86824049hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693355
Supporting Variants
Samples
Known GenesODF2L
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)nssv17206171
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