A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203215



Internal ID21650724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35697489..35697489hg38UCSC Ensembl
chr20:34285411..34285411hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708097
Supporting Variants
Samples
Known GenesNFS1
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)nssv17203215
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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