A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716570



Internal ID21742891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20507651..20507651hg38UCSC Ensembl
chr14:20975810..20975810hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245951, nssv17244826
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716570
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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