A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720233



Internal ID21746554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28184913..28184913hg38UCSC Ensembl
chr13:28759050..28759050hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239208
Samples
Known GenesPAN3
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)nsv5720233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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