A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993630



Internal ID21902973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52725458..52726845hg38UCSC Ensembl
chr3:52759474..52760861hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17553469
Samples
Known GenesNEK4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993630
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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