A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212322



Internal ID21659831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100895574..100895574hg38UCSC Ensembl
chr5:100231278..100231278hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693143
Supporting Variants
Samples
Known GenesST8SIA4
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)nssv17212322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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