A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728951



Internal ID21755272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66045752..66045752hg38UCSC Ensembl
chr1:66511435..66511435hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242684, nssv17242857
Samples
Known GenesPDE4B
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)nsv5728951
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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