A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688095



Internal ID21714416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167446548..167446548hg38UCSC Ensembl
chr3:167164336..167164336hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224283, nssv17208480
Samples
Known GenesSERPINI2
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)nsv5688095
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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