A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719867



Internal ID143533
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 StatusS
Merged Variantsnsv5520416
Supporting Variants
Samples
Known GenesATP9B, NFATC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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