A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187469



Internal ID21634978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93563699..93563699hg38UCSC Ensembl
chr9:96325981..96325981hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696663
Supporting Variants
Samples
Known GenesFAM120A
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)nssv17187469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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