A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988783



Internal ID21898126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24094681..24327768hg38UCSC Ensembl
chr2:24317551..24550637hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38233088
hg19233087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536744
Samples
Known GenesFAM228A, FAM228B, ITSN2, PFN4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988783
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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