A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726204



Internal ID21752525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109153990..109153990hg38UCSC Ensembl
chr6:109475193..109475193hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240155
Samples
Known GenesCEP57L1
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)nsv5726204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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