A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715412



Internal ID21741733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101369393..101369393hg38UCSC Ensembl
chr3:101088237..101088237hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236013
Samples
Known GenesSENP7
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)nsv5715412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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