A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715776



Internal ID21742097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42030769..42030769hg38UCSC Ensembl
chr12:42424571..42424571hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252892, nssv17249928
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)nsv5715776
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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