A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598688



Internal ID21547316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41563438..41563516hg38UCSC Ensembl
chr18:39143402..39143480hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100941
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598688
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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