A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6109155



Internal ID22018388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54130291..54130291hg38UCSC Ensembl
chr19:54633722..54633722hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633922
Samples
Known GenesPRPF31
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6109155
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