A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227454



Internal ID21674963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39316167..39316167hg38UCSC Ensembl
chr19:39806807..39806807hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709474
Supporting Variants
Samples
Known Genes
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)nssv17227454
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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