A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200969



Internal ID21648478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47245734..47245734hg38UCSC Ensembl
chr20:45874478..45874478hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704834
Supporting Variants
Samples
Known GenesZMYND8
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)nssv17200969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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