A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722047



Internal ID21748368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33134336..33134336hg38UCSC Ensembl
chr19:33625242..33625242hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234202
Samples
Known GenesWDR88
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)nsv5722047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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