A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192218



Internal ID21639727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233989583..233989583hg38UCSC Ensembl
chr1:234125329..234125329hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692335
Supporting Variants
Samples
Known GenesSLC35F3
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)nssv17192218
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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