A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238888



Internal ID21686397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43820529..43820529hg38UCSC Ensembl
chr20:42449169..42449169hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729412
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)nssv17238888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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