A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194331



Internal ID21641840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129490626..129490626hg38UCSC Ensembl
chr12:129975171..129975171hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702497
Supporting Variants
Samples
Known GenesTMEM132D
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)nssv17194331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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