A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846226



Internal ID22029869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129338200..129338200hg38UCSC Ensembl
chr12:129822745..129822745hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248711
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846226
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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