A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846106



Internal ID22029749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:62092068..62092068hg38UCSC Ensembl
chr14:62558786..62558786hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258945
Supporting Variants
Samples
Known GenesSYT16
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846106
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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