A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520204



Internal ID296538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69773357..69786144hg38UCSC Ensembl
chr18:67440593..67453380hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3812788
hg1912788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719198
Samples
Known GenesDOK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520204
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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