A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248833



Internal ID22377104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47544935..47564432hg38UCSC Ensembl
Outerchr20:46173679..46193176hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267252, nssv14267253
SamplesNA19238, NA19240
Known GenesNCOA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248833
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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