A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249343



Internal ID21696852
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 StatusS
Merged Variantsnsv5717978
Supporting Variants
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)nssv17249343
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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