A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203227



Internal ID21650736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36663047..36663047hg38UCSC Ensembl
chr20:35291450..35291450hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5712687
Supporting Variants
Samples
Known GenesNDRG3
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)nssv17203227
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