A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195016



Internal ID22345256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:87974418..87997879hg38UCSC Ensembl
Outerchr5:87270235..87293696hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3823462
hg1923462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273676
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195016
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