A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196901



Internal ID22346841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204340332..204350906hg38UCSC Ensembl
Outerchr1:204309460..204320034hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3810575
hg1910575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256108
SamplesHG00513
Known GenesPLEKHA6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196901
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