A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992919



Internal ID21902262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192219416..192278904hg38UCSC Ensembl
chr3:191937205..191996693hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3859489
hg1959489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544688
Samples
Known GenesFGF12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992919
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