A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517264



Internal ID293689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69981405..69984181hg38UCSC Ensembl
chr18:67648641..67651417hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg382777
hg192777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719207
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517264
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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