A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721738



Internal ID21748059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13231525..13231525hg38UCSC Ensembl
chr18:13231524..13231524hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241455
Samples
Known GenesLDLRAD4
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)nsv5721738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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