A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200451



Internal ID21647960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81683637..81683637hg38UCSC Ensembl
chr17:79650667..79650667hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701380
Supporting Variants
Samples
Known GenesARL16
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)nssv17200451
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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