A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728776



Internal ID21755097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22719376..22719376hg38UCSC Ensembl
chr4:22720999..22720999hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384036
hg194036
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234546
Samples
Known GenesGBA3
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)nsv5728776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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