A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557850



Internal ID330933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99667769..99667769hg38UCSC Ensembl
chr7:99265392..99265392hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002915
Samples
Known GenesCYP3A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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