A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696663



Internal ID21722984
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 StatusM
Merged Variants
Supporting Variantsnssv17187469
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)nsv5696663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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