A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724439



Internal ID21750760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96312524..96312524hg38UCSC Ensembl
chr8:97324752..97324752hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382733
hg192733
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252995, nssv17238645
Samples
Known GenesPTDSS1
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)nsv5724439
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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