A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531617



Internal ID307572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68767235..68767663hg38UCSC Ensembl
chr18:66434472..66434900hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719136
Samples
Known GenesCCDC102B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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