A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722431



Internal ID21748752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66015579..66015579hg38UCSC Ensembl
chr9:42505762..42505762hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245451
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722431
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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