A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242008



Internal ID21689517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78521974..78521974hg38UCSC Ensembl
chr13:79096109..79096109hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg384021
hg194021
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720406
Supporting Variants
Samples
Known GenesRNF219-AS1
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)nssv17242008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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