A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202738



Internal ID21650247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38841055..38841055hg38UCSC Ensembl
chr19:39331695..39331695hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5712558
Supporting Variants
Samples
Known GenesHNRNPL
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17202738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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