A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520416



Internal ID296747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79087260..79419518hg38UCSC Ensembl
chr18:76847260..77179518hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38332259
hg19332259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719867
Samples
Known GenesATP9B, NFATC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520416
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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