A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239238



Internal ID22370420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17651760..17662042hg38UCSC Ensembl
Outerchr20:17632405..17642687hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267039, nssv14267040
SamplesHG00512, HG00513
Known GenesRRBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239238
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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