A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211380



Internal ID22358954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183472211..183480149hg38UCSC Ensembl
Outerchr3:183189999..183197937hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272011, nssv14272010, nssv14272007, nssv14272008, nssv14272012, nssv14272009
SamplesHG00512, NA19238, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211380
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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