A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717728



Internal ID21744049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73590333..73590333hg38UCSC Ensembl
chr3:73639484..73639484hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234480, nssv17247452
Samples
Known GenesPDZRN3
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)nsv5717728
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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