A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223095



Internal ID22366966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:3178619..3196238hg38UCSC Ensembl
Outerchr3:3220303..3237922hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270923, nssv14270922, nssv14270921, nssv14270919, nssv14270924, nssv14270920
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesCRBN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223095
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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