A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234546



Internal ID21682055
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 StatusS
Merged Variantsnsv5728776
Supporting Variants
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)nssv17234546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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