A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243800



Internal ID22375676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2816932..2834653hg38UCSC Ensembl
Outerchr20:2797578..2815299hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265803, nssv14265804
SamplesNA19238, HG00513
Known GenesTMEM239
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243800
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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