A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678974



Internal ID21705295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:98962011..98962011hg38UCSC Ensembl
chr5:98297715..98297715hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212300, nssv17176627
Samples
Known Genes
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)nsv5678974
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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