A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17225010



Internal ID21672519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183840499..183840499hg38UCSC Ensembl
chr3:183558287..183558287hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674337
Supporting Variants
Samples
Known GenesPARL
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)nssv17225010
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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