A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234480



Internal ID21681989
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 StatusS
Merged Variantsnsv5717728
Supporting Variants
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)nssv17234480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer