A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184615



Internal ID21632124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42644742..42644742hg38UCSC Ensembl
chr8:42499885..42499885hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703443
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)nssv17184615
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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