A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578113



Internal ID21526576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19482958..19483051hg38UCSC Ensembl
chr2:19682719..19682812hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111137
SamplesNA18939
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578113
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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