A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453472



Internal ID231593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46527619..46533000hg38UCSC Ensembl
chr2:46754758..46760139hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385382
hg195382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725858
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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