A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5585497



Internal ID21534045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49460982..49461044hg38UCSC Ensembl
chr18:46987352..46987414hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101645
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5585497
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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