A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207438



Internal ID21654947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54746364..54746364hg38UCSC Ensembl
chr2:54973501..54973501hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689569
Supporting Variants
Samples
Known GenesEML6
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)nssv17207438
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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