A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246666



Internal ID21694175
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 StatusS
Merged Variantsnsv5723088
Supporting Variants
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)nssv17246666
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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