A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218719



Internal ID21666228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207050395..207050395hg38UCSC Ensembl
chr2:207915119..207915119hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688429
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)nssv17218719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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