A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216201



Internal ID21663710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113694046..113694046hg38UCSC Ensembl
chr3:113412893..113412893hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683109
Supporting Variants
Samples
Known GenesKIAA2018
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)nssv17216201
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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