A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201475



Internal ID21648984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34710614..34710614hg38UCSC Ensembl
chr18:32290578..32290578hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700062
Supporting Variants
Samples
Known GenesDTNA
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)nssv17201475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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