A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716065



Internal ID21742386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117799995..117799995hg38UCSC Ensembl
chr2:118557571..118557571hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383374
hg193374
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233664, nssv17235121
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)nsv5716065
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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