A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717262



Internal ID21743583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6294573..6294573hg38UCSC Ensembl
chr6:6294806..6294806hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233583
Samples
Known GenesF13A1
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)nsv5717262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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