A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843921



Internal ID22027564
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 Variantsnsv6248412
Supporting Variants
Samples
Known GenesTMTC3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843921
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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