A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223350



Internal ID21670859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40191079..40191079hg38UCSC Ensembl
chr3:40232570..40232570hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690732
Supporting Variants
Samples
Known GenesEIF1B-AS1, MYRIP
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)nssv17223350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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