A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693143



Internal ID21719464
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 StatusM
Merged Variants
Supporting Variantsnssv17176412, nssv17212322
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)nsv5693143
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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