A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218790



Internal ID22364024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:147872433..147900836hg38UCSC Ensembl
Outerchr3:147590220..147618623hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg382257
hg192257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271576, nssv14271575, nssv14271577, nssv14271574
SamplesHG00512, NA19238, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218790
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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