A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202120



Internal ID21649629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28885642..28885642hg38UCSC Ensembl
chr22:29281630..29281630hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710489
Supporting Variants
Samples
Known GenesZNRF3
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)nssv17202120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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