A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983413



Internal ID21892756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246783053..246783324hg38UCSC Ensembl
chr1:246946355..246946626hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529074
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983413
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer