A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696905



Internal ID120571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36791745..36791826hg38UCSC Ensembl
chr14:37260950..37261031hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510768
Supporting Variants
Samples
Known GenesSLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696905
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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