A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717592



Internal ID21743913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55048133..55048133hg38UCSC Ensembl
chr12:55441917..55441917hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383153
hg193153
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246055, nssv17237977
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)nsv5717592
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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