A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210248



Internal ID21657757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231413110..231413110hg38UCSC Ensembl
chr2:232277821..232277821hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5687986
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)nssv17210248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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