A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207551



Internal ID22355923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145396523..145420350hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3823828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253518
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207551
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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