A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522868



Internal ID299124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66008304..66018416hg38UCSC Ensembl
chr17:64004422..64014534hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3810113
hg1910113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715486
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522868
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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