A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17174331



Internal ID21621840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84306307..84306307hg38UCSC Ensembl
chr1:84771990..84771990hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678898
Supporting Variants
Samples
Known GenesSAMD13
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)nssv17174331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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