A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722822



Internal ID21749143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77267592..77267592hg38UCSC Ensembl
chr12:77661372..77661372hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249648
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)nsv5722822
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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