A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717220



Internal ID21743541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106372356..106372356hg38UCSC Ensembl
chr12:106766134..106766134hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247505
Samples
Known GenesPOLR3B
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)nsv5717220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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