A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723636



Internal ID21749957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18454352..18454352hg38UCSC Ensembl
chr12:18607286..18607286hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248936
Samples
Known GenesPIK3C2G
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)nsv5723636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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