A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193278



Internal ID21640787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92899033..92899033hg38UCSC Ensembl
chr12:93292809..93292809hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707326
Supporting Variants
Samples
Known GenesEEA1
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)nssv17193278
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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