A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999343



Internal ID21908686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:23992643..23995216hg38UCSC Ensembl
chr5:23992752..23995325hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg382574
hg192574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550449
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999343
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