A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240754



Internal ID21688263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:29032556..29032556hg38UCSC Ensembl
chr9_gl000198_random:74310..74310hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383044
hg193044
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726455
Supporting Variants
Samples
Known Genes
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)nssv17240754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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