A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716671



Internal ID21742992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43141064..43141064hg38UCSC Ensembl
chr12:43534867..43534867hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240352, nssv17233734
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)nsv5716671
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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