A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725880



Internal ID21752201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10665787..10665787hg38UCSC Ensembl
chr19:10776463..10776463hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250349
Samples
Known GenesILF3
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)nsv5725880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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