A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221627



Internal ID22365948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:28219633..28220703hg38UCSC Ensembl
Outerchr3:28261124..28262194hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271819
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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