A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224158



Internal ID21671667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208429267..208429267hg38UCSC Ensembl
chr2:209293992..209293992hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678433
Supporting Variants
Samples
Known GenesPTH2R
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)nssv17224158
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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