A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692198



Internal ID115864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102005631..102017277hg38UCSC Ensembl
chr13:102657981..102669627hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3811647
hg1911647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503793
Supporting Variants
Samples
Known GenesFGF14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692198
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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