A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975210



Internal ID50859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154047150..154049626hg38UCSC Ensembl
chr5:153426710..153429186hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563339
Supporting Variants
Samples
Known GenesMFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975210
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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