A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699001



Internal ID21725322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33196670..33196670hg38UCSC Ensembl
chr9:33196668..33196668hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185742
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)nsv5699001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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