A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220188



Internal ID22364961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:183827030..183834753hg38UCSC Ensembl
Outerchr1:183796164..183803887hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3851009
hg1951009
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269215
SamplesNA19239
Known GenesRGL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220188
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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