A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729037



Internal ID21755358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67751177..67751177hg38UCSC Ensembl
chr12:68144957..68144957hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382504
hg192504
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242899, nssv17239656
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)nsv5729037
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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