A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191216



Internal ID22341951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:4038593..4069094hg38UCSC Ensembl
Outerchr1:4098653..4129154hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3830502
hg1930502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254973
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191216
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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