A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559641



Internal ID332670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11136876..11137691hg38UCSC Ensembl
chr18:11136875..11137690hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715410
Samples
Known GenesPIEZO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559641
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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