A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17219560



Internal ID21667069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64077430..64077430hg38UCSC Ensembl
chr3:64063106..64063106hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684123
Supporting Variants
Samples
Known GenesPRICKLE2-AS1
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)nssv17219560
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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