A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714416



Internal ID21740737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101712435..101712435hg38UCSC Ensembl
chr3:101431279..101431279hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg384309
hg194309
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241633
Samples
Known GenesPDCL3P4
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)nsv5714416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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