A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223605



Internal ID21671114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88185719..88185719hg38UCSC Ensembl
chr12:88579496..88579496hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697997
Supporting Variants
Samples
Known GenesTMTC3
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)nssv17223605
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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