A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202754



Internal ID21650263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40360515..40360515hg38UCSC Ensembl
chr19:40866422..40866422hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708313
Supporting Variants
Samples
Known GenesPLD3
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)nssv17202754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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