A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906152



Internal ID4900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65879423..65879474hg38UCSC Ensembl
chr1:66345106..66345157hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410697
Supporting Variants
Samples
Known GenesPDE4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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