A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228206



Internal ID22370468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:181449445..181477383hg38UCSC Ensembl
Outerchr3:181167233..181195171hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg383191
hg193191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271998, nssv14271999, nssv14272000, nssv14271994, nssv14271997, nssv14271996, nssv14271995
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSOX2-OT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228206
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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