A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717978



Internal ID21744299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59916684..59916684hg38UCSC Ensembl
chr5:59212511..59212511hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249343
Samples
Known GenesPDE4D
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)nsv5717978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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