A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715477



Internal ID139143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65775712..65778886hg38UCSC Ensembl
chr17:63771830..63775004hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514414
Supporting Variants
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715477
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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