A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720140



Internal ID21746461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69506304..69506304hg38UCSC Ensembl
chr8:70418539..70418539hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243188
Samples
Known GenesSULF1
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)nsv5720140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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