A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517342



Internal ID293768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69412372..69428685hg38UCSC Ensembl
chr18:67079608..67095921hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3816314
hg1916314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719177
Samples
Known GenesDOK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517342
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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