A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566778



Internal ID21515107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53972038..53972334hg38UCSC Ensembl
chr2:54199175..54199471hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114437
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566778
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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