A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249720



Internal ID22377357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:56575267..56596995hg38UCSC Ensembl
Outerchr18:54242498..54264226hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262428
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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