A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517385



Internal ID293810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75460404..75462517hg38UCSC Ensembl
chr18:73172359..73174472hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382114
hg192114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719538
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517385
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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