A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236026



Internal ID22373464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35978367..36000681hg38UCSC Ensembl
Outerchr20:34566289..34588603hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3827276
hg1927276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266474
SamplesNA19239
Known GenesCNBD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236026
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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