A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723088



Internal ID21749409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106879142..106879142hg38UCSC Ensembl
chr7:106519587..106519587hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg382219
hg192219
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246666
Samples
Known GenesPIK3CG
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)nsv5723088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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