A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709304



Internal ID21735625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29386214..29386214hg38UCSC Ensembl
chr21:30758534..30758534hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217347, nssv17203676
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)nsv5709304
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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