A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715465



Internal ID139131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65623928..66046050hg38UCSC Ensembl
chr17:63620046..64042168hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38422123
hg19422123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520529
Supporting Variants
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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