A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692213



Internal ID115879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102300312..102300401hg38UCSC Ensembl
chr13:102952662..102952751hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497059
Supporting Variants
Samples
Known GenesFGF14, FGF14-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006712


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