A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193175



Internal ID21640684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78973939..78973939hg38UCSC Ensembl
chr12:79367719..79367719hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701032
Supporting Variants
Samples
Known GenesSYT1
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)nssv17193175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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