A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195454



Internal ID22345637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149447504..149574560hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38127057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258529
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195454
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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