A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194251



Internal ID22344589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105238616..105310703hg38UCSC Ensembl
Outerchr3:104957460..105029547hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3872088
hg1972088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270196
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194251
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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