A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716973



Internal ID21743294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47340329..47340329hg38UCSC Ensembl
chr12:47734112..47734112hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245257, nssv17242305
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)nsv5716973
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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