A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697170



Internal ID120836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90020814..90020819hg38UCSC Ensembl
chr14:90487158..90487163hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548804
Supporting Variants
Samples
Known GenesTDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697170
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.062773


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