A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200785



Internal ID21648294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9323183..9323183hg38UCSC Ensembl
chr18:9323181..9323181hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702630
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)nssv17200785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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