A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205854



Internal ID22354483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:70455174..70511615hg38UCSC Ensembl
Outerchr3:70504325..70560766hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3856442
hg1956442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271122
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205854
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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