A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218808



Internal ID21666317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131756212..131756212hg38UCSC Ensembl
chr12:132240757..132240757hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697416
Supporting Variants
Samples
Known GenesSFSWAP
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)nssv17218808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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