A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714355



Internal ID21740676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81721235..81721235hg38UCSC Ensembl
chr3:81770386..81770386hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233934, nssv17239078
Samples
Known GenesGBE1
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)nsv5714355
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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