A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716620



Internal ID21742941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114661708..114661708hg38UCSC Ensembl
chr3:114380555..114380555hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235585
Samples
Known GenesZBTB20
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)nsv5716620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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