A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214583



Internal ID22361199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194237107..194277997hg38UCSC Ensembl
Outerchr3:193954896..193995786hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381615
hg191615
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271418, nssv14272045, nssv14271419, nssv14272044
SamplesNA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214583
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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