A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713608



Internal ID21739929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36764082..36764082hg38UCSC Ensembl
chr14:37233287..37233287hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194732
Samples
Known GenesSLC25A21
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)nsv5713608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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