A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988143



Internal ID21897486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218894010..218898375hg38UCSC Ensembl
chr2:219758732..219763097hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384366
hg194366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519337
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988143
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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