A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213697



Internal ID22360566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194274159..194277997hg38UCSC Ensembl
Outerchr3:193991948..193995786hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272534, nssv14272535
SamplesHG00512, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213697
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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