A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187146



Internal ID21634655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69379038..69379038hg38UCSC Ensembl
chr9:71993954..71993954hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700706
Supporting Variants
Samples
Known GenesFAM189A2
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)nssv17187146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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