A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190453



Internal ID22341312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151503094..151505417hg38UCSC Ensembl
Outerchr5:150882655..150884978hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382324
hg192324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272711
SamplesNA19238
Known GenesFAT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190453
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