A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725917



Internal ID21752238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29817101..29817101hg38UCSC Ensembl
chr19:30308008..30308008hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235170
Samples
Known GenesCCNE1
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)nsv5725917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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