A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697343



Internal ID121009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99449747..99449798hg38UCSC Ensembl
chr14:99916084..99916135hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431647
Supporting Variants
Samples
Known GenesSETD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697343
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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