A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184746



Internal ID21632255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68003090..68003090hg38UCSC Ensembl
chr8:68915325..68915325hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697472
Supporting Variants
Samples
Known GenesPREX2
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)nssv17184746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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