A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716697



Internal ID21743018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107095914..107095914hg38UCSC Ensembl
chr12:107489692..107489692hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241085
Samples
Known Genes
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)nsv5716697
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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