A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196338



Internal ID22346369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177768981..177825187hg38UCSC Ensembl
Outerchr5:177195982..177252188hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856207
hg1956207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7653n152
Supporting Variantsnssv14273334
SamplesNA19239
Known GenesFAM153A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196338
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