A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516546



Internal ID293000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68840904..69057813hg38UCSC Ensembl
chr18:66508141..66725050hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38216910
hg19216910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719141
Samples
Known GenesCCDC102B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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