A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243345



Internal ID22375544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62807652..62840452hg38UCSC Ensembl
Outerchr20:61439004..61471804hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268107
SamplesHG00731
Known GenesCOL9A3, OGFR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243345
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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