A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726932



Internal ID21753253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21442106..21442106hg38UCSC Ensembl
chr3:21483598..21483598hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245633
Samples
Known GenesZNF385D
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)nsv5726932
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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