A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227146



Internal ID22369733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:177263993..177291784hg38UCSC Ensembl
Outerchr3:176981781..177009572hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382999
hg192999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272527, nssv14272524
SamplesHG00512, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227146
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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