A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248410



Internal ID21695919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53801321..53801321hg38UCSC Ensembl
chr20:52417860..52417860hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717280
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)nssv17248410
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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