A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696240



Internal ID119906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52525518..52525685hg38UCSC Ensembl
chr14:52992236..52992403hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506419
Supporting Variants
Samples
Known GenesTXNDC16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.089342


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