A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184867



Internal ID21632376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98214026..98214026hg38UCSC Ensembl
chr8:99226254..99226254hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700981
Supporting Variants
Samples
Known GenesNIPAL2
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)nssv17184867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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