A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721203



Internal ID21747524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80659476..80659476hg38UCSC Ensembl
chr8:81571711..81571711hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245933
Samples
Known GenesZNF704
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)nsv5721203
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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