A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590729



Internal ID21539299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69659856..69659909hg38UCSC Ensembl
chr18:67327092..67327145hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17102041
SamplesNA18939
Known GenesDOK6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590729
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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