A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221269



Internal ID21668778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172043773..172043773hg38UCSC Ensembl
chr3:171761563..171761563hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683903
Supporting Variants
Samples
Known GenesFNDC3B
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)nssv17221269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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