A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663360



Internal ID21611665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57678908..57678908hg38UCSC Ensembl
chr18:55346140..55346140hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101531
SamplesHG03486
Known GenesATP8B1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663360
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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