A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728781



Internal ID21755102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47661635..47661635hg38UCSC Ensembl
chr12:48055418..48055418hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237043
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)nsv5728781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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