A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17183960



Internal ID21631469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172285177..172285177hg38UCSC Ensembl
chr1:172254317..172254317hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683421
Supporting Variants
Samples
Known GenesDNM3
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)nssv17183960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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