A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17208489



Internal ID21655998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167781103..167781103hg38UCSC Ensembl
chr3:167498891..167498891hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693846
Supporting Variants
Samples
Known GenesSERPINI1
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)nssv17208489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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