A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17231985



Internal ID21679494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43088005..43088005hg38UCSC Ensembl
chr3:43129497..43129497hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693472
Supporting Variants
Samples
Known GenesPOMGNT2
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)nssv17231985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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