A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216325



Internal ID22362352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:20689601..20713288hg38UCSC Ensembl
Outerchr3:20731093..20754780hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385949
hg195949
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271806, nssv14271805, nssv14271803, nssv14271804
SamplesHG00512, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216325
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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