A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730121



Internal ID21756442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218802018..218802018hg38UCSC Ensembl
chr2:219666741..219666741hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237027, nssv17238332
Samples
Known GenesCYP27A1
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)nsv5730121
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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